CARLA ROSENBERG

Professora Associada Senior do Departamento de Genética e Biologia Evolutiva do IB-USP. Realizou pós-doutorado na Universidade Johns Hopkins (EUA) e foi Professora Associada na Leiden University Medical Center, Holanda. Tem experiência nas áreas de Genética e Citogenética humana, atuando principalmente na pesquisa e diagnóstico de deficiência intelectual e anomalias congênitas .

Informações coletadas do Lattes em 20/06/2024

Acadêmico

Formação acadêmica

Doutorado em Ciências Biológicas (Biologia Genética)

1985 - 1989

Universidade de São Paulo
Título: Sindrome do X-fragil em heterozigotas
Orientador: Dra Angela Maria Vianna Morgante
Bolsista do(a): Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP, Brasil.

Mestrado em Biologia Celular e Molecular

1982 - 1984

Universidade de São Paulo
Título: Citogenetica da Intersexualidade, Ano de Obtenção: 1984
Orientador: Dr Oswaldo Frota-Pessoa
Bolsista do(a): Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP, Brasil. Palavras-chave: citogenetica; genetica humana.Grande área: Ciências Biológicas

Graduação em Ciências Biológicas

1977 - 1981

Universidade de São Paulo
Orientador: Oswaldo Frota Pessoa
Bolsista do(a): Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP, Brasil.

Pós-doutorado

1992 - 1992

Pós-Doutorado. , Radium Hospital, RHO, Noruega.

1990 - 1991

Pós-Doutorado. , Johns Hopkins University, JHU, Estados Unidos. , Bolsista do(a): National Institute of Health, NIH, Estados Unidos.

1989 - 1990

Pós-Doutorado. , Johns Hopkins University, JHU, Estados Unidos. , Bolsista do(a): Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP, Brasil. , Grande área: Ciências Biológicas, Grande Área: Ciências Biológicas / Área: Genética / Subárea: Genética Humana e Médica / Especialidade: Citogenetica Molecular.

Formação complementar

2018 - 2018

Genomics of Rare Disease. (Carga horária: 24h). , Wellcome Trust Sanger Institute, SANGER, Inglaterra.

2018 - 2018

NGS in a diagnostic setting. (Carga horária: 40h). , Instituto de Biociências - Universidade de São Paulo, IB- USP, Brasil.

2015 - 2015

Analyzing next-generation sequence data. (Carga horária: 80h). , Michigan State University, MSU, Estados Unidos.

Idiomas

Inglês

Compreende Bem, Fala Bem, Lê Bem, Escreve Bem.

Espanhol

Compreende Bem, Fala Bem, Lê Bem, Escreve Pouco.

Francês

Compreende Razoavelmente, Fala Razoavelmente, Lê Razoavelmente, Escreve Pouco.

Holandês

Compreende Bem, Fala Razoavelmente, Lê Razoavelmente, Escreve Razoavelmente.

Áreas de atuação

Grande área: Ciências Biológicas / Área: Genética / Subárea: Citogenetica Molecular/Especialidade: Fish.

Grande área: Ciências Biológicas / Área: Genética / Subárea: Genética Humana e Médica/Especialidade: Citogenetica Molecular.

Grande área: Ciências Biológicas / Área: Genética / Subárea: Genética Humana e Médica/Especialidade: Retardo Mental.

Grande área: Ciências Biológicas / Área: Genética / Subárea: Citogenetica Molecular/Especialidade: Cancer.

Participação em eventos

2nd Gencodys Integrative Networks in Intellectual Disabilities. Diagnostic efficiency of intellectual disability etiology by a combination of SNP arrays and targeted gene sequecing. 2015. (Congresso).

4a. Reunião Brasileira de Citogenética.Array-CGH como ferramenta adicional no diagnóstico citogenético de deficiência intelectual. 2015. (Encontro).

65th Annual Meeting of American Society of Human Genetics. DNA methylation landscape of sporadic and melanoma-prone patients. 2015. (Congresso).

XXVII Congresso Brasileiro de Genética Médica. Array CGH e deficiência intelectual. 2015. (Congresso).

33ª Jornada acadêmica.Onde a genética e a odontologia se encontram. 2013. (Simpósio).

Gencodys Integrative Networks in Intellectual Disabilities. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivations. 2013. (Congresso).

2012 ISCA Consortium Conference. Current array CGH diagnosis in mental impairment and congenital abnormalities in Brazil.. 2012. (Congresso).

62nd Annual Meetin of the American Society of Human Genetics. Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing. 2012. (Congresso).

II Encontro paulista de Citogenética.Citogenética de alta resolução: indicações, significado clínico e viabilidade da técnica de array-CGH.. 2012. (Encontro).

2 ª Reunião Brasileira de Citogenética.Correlação Genótipo-Fenótipo: interpretando os desequilíbrios genômicos. 2011. (Encontro).

Frontiers in Basic Cancer Research. GERM-LINE SUBMICROSCOPIC CHROMOSOME IMBALANCES IN PEDIATRIC CANCER. 2011. (Congresso).

60th Annual Meeting of the American Society of Human Genetics. Germinative copy number changes in familial cancer predisposition.. 2010. (Congresso).

6th International DECIPHER Symposium - The Wellcome Trust Conference Center. Germinative copy number changes in familial cancer predisposition. 2010. (Congresso).

Congresso Brasileiro de Genética. Há um aumento no número de sópias de sequências de DNA em famílias com predisposição a câncer?. 2010. (Congresso).

Global Meeting to Translational Science. Advances in the diagnosis of mental retardation: from karyotyping to molecular cytogenetics. 2010. (Congresso).

14th International Workshop on Fragile X and X-linked Mental Retardation. Is the excess of male mental retardation caused by functional and structural pecularities of the X chromosome?. 2009. (Congresso).

14 Encontro da Sociedade Brasileira de Neurologia Infantil. Distúrbios cognitivos e comportamentais da deficiência mental: um novo olhar sobre os cromossomos. 2009. (Congresso).

XXIII Congresso Brasileiro de Neurologia. Investigação de Rearranjos cromossômicos por Hibridização comparativa em genomas em arrays (CGH-array) em pacientes com retardo mental e agenesia de corpo caloso. 2008. (Congresso).

2nd DECIPHER Symposium - The Wellcome Trust Conference Center.One Mb array-CGH screening in patients with congenital abnormalities: new alterations and old syndromes revisited. 2006. (Simpósio).

Simpósio: 50 anos de Citogenética, Hospital Albert Einstein.Doenças genômicas: os microrrearranjos cromossômicos. 2006. (Simpósio).

XXII Congresso de Neurologia. Diagnóstico de Retardo Mental na Era Molecular. 2006. (Congresso).

1st DECIPHER Symposium, The Wellcome Trust Conference Centre.Array-CGH study of mental retardation: a brazilian experience. 2005. (Simpósio).

51° Congresso da Sociedade Brasileira de Genética. Array-CGH no diagnóstico de doenças genéticas: significado clínico das alterações genômicas. 2005. (Congresso).

XVII Congresso Brasileiro de Genética Clínica. Array-CGH no diagnóstico de retardo mental. 2005. (Congresso).

Congresso da Sociedade Brasileira de Genetica. Conferencia: Array CGH: um avanco no diagnostico de retardo Mental. 2004. (Congresso).

Gordon Conference in Molecular Cytogenetics. Discussion in CGH. 1998. (Congresso).

Annual Meeting of the American Society of Human Genetics. CGH study of solid tumors. 1997. (Congresso).

"Voorjaarsvergadering Nederlanse Vereniging voor Celbiologie" (encontro anual da sociedade holandesa de biologia celular". Participacao em mesa redonda: Comparative Genomic Hybridization of Germ Cell Tumors. 1996. (Congresso).

Annual Meeting of the American Society of Human Genetics. Improvements in array CGH technique. 1996. (Congresso).

Fourth Plenary workshop of the European Community Concerted Action.CGH interpretation in hypotryploid hypodiploid tumors. 1996. (Encontro).

Gordon Conference in Molecular Cytogenetics. CGH in cancer cytogenetics. 1996. (Congresso).

Annual Meeting of the American Society of Human Genetics. Replication forks in Yeast by FiberFISH. 1994. (Congresso).

Gordon Conference in Molecular Cytogenetics. Participacao em mesa redonda: Advances in FISH and Cytogenetics Technologies: B. J. Trask, discussion leader. 1994. (Congresso).

Participação em bancas

Aluno: Naja Vergani

Koiffmann, Célia P.ROSENBERG, C.MINGRONI NETTO, R C. Herança epigenética na inativação do cromossomo X. 2012. Dissertação (Mestrado em Biologia Genética) - Instituto de Biociências - Universidade de São Paulo.

Aluno: Melina Guerreiro Rodrigues

Koiffmann, Célia P.Vianna-Morgante, Angela MBertola, Debora R.ROSENBERG, C.. Displasia Frontonasal. 2011. Dissertação (Mestrado em Biologia Genética) - Instituto de Biociências - Universidade de São Paulo.

Aluno: Estela Mitie Cruvinel

ROSENBERG, C.. Diferenciação neuronal in vitro de células-tronco humanas. 2010.

Aluno: Joana Carvalho Moreira de Mello

CARRAMASCHI, L. V. P.; GALANTE, P. A. F.;Vianna-Morgante, A. MROSENBERG, C.; SOUZA, J. E. S.. Estudos da inativação do cromossomo X em humanos: iniciação e imprinting. 2015. Tese (Doutorado em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Fernanda Carregaro

SILVA, E. H. T.; VAINZOF, M.;ROSENBERG, C.; LEOPOLDINO, A. M.. Estudo das proteinas pequenas ricas em prolina (SPRRs) em câncer de cabeça e pescoço. 2012. Tese (Doutorado em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Fernanda Bernardi Bertonha

CARVALHO, A. L.;ROSENBERG, C.Achatz, Maria Isabel W; Carraro, Dirce M. Caracterização da região 22q13.31 e sua associação com genes supressores de tumor em carcinomas de cabeça e pescoço. 2012. Tese (Doutorado em Oncologia) - Fundação Antônio Prudente.

Aluno: Ana Lucia Pereira Monteiro Catelani

ROSENBERG, C.Bertola, Debora RomeoKoiffmann, CPOtto, P.A.. Variação no número de cópias de segmentos de DNA (CNV) em apcientes com surdez sindrômica. 2010. Tese (Doutorado em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Ilana Kohl

Koiffmann, CPROSENBERG, C.KIM, C. A.. Pesquisa de genes e/ou segmentos cromossômicos em pacientes com obesidade e/ou hiperfagia, atraso do desenvolvimento neuropsicomotor e/ou dificuldades de aprendizado e distúrbios de comportamento. 2010.

Aluno: Bianca Rodrigus da Cunha

ROSENBERG, C.; ZATZ, MAYANA; MARTINS, P. C. M.. Secretoma - uma fonte de biomarcadores de câncer. 2015. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Danielle de Paula Moreira

CARRAMASCHI, L. V. P.;ROSENBERG, C.; VIBRANOVSKI, M. D.. Modelos biológicos usados para entender as variantes genéticas associadas ao transtorno do espectro autista. 2015. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Joana Carvalho Moreira de Mello

BUENO, M. R. S. E. P.;ROSENBERG, C.; OKAMOTO, O. K.. Controle epigenético de expressão alelo-específica no cromossomo X. 2012. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Daniele Yumi Sunaga de Oliveira

TORRES, T. T.;ROSENBERG, C.; MEYER, D.. Bioinformática, Genética e Expressão Gênica. 2012. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Jose Oliveira dos Santos

Mingroni-Netto, R.C.ROSENBERG, C.; CARRAMASCHI, L. V. P.. Identificando enes relacionados à deficiência mental de herança ligada ao X. 2012. Exame de qualificação (Doutorando em Ciências Biológicas (Genética)) - Universidade de São Paulo.

Aluno: Beatriz de Araujo Cortez

ROSENBERG, C.; HADDAD, L. A.;Krepischi, A. C.. Biologia de células tumorais - relação entre erros mitóticos e aneuploidias. 2012. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Fernanda Carregaro

ROSENBERG, C.; OKAMOTO, O. K.;Krepischi, A.C.V.. Proteinas relacionadas com envelope córneo e câncer. 2011. Exame de qualificação (Doutorando em Genética Humana) - Instituto de Biociências - Universidade de São Paulo.

Aluno: Fernanda Carregaro

ROSENBERG, C.; OKAMOTO, O. K.;Krepischi, A. C.. Proteínas relacionadas com envelope córneo e câncer. 2011. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Karen Nogueira Coqueti

ROSENBERG, C.. O cromossomo X em mães de homens afetados por deficiência mental. 2010. Exame de qualificação (Doutorando em Ciências Biológicas (Genética)) - Universidade de São Paulo.

Aluno: Renata Soares Thiele de Aguiar

ROSENBERG, C.. Em busca de genes de defeitos de membros. 2010. Exame de qualificação (Doutorando em Ciências Biológicas (Genética)) - Universidade de São Paulo.

Aluno: Daniela Tiaki Uehara

Koiffmann, CPROSENBERG, C.JEHEE, F.. Buscas de novos genes de surdez sindrômica e não-sindrômica por meio de estudos de variação no número de cópias. 2010.

Aluno: Flavio Trevisan Barbosa Sandoval

ROSENBERG, C.MINGRONI NETTO, R C. MicroRNA e câncer. 2010.

Aluno: Ilana Kohl

ROSENBERG, C.. Obesidade sindrômica: pesquisa de genes e/ou segmentos cromossômicos e da relação com o fenótipo. 2009. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Liliian Kimura

Otto, PAROSENBERG, C.; Vianna-Morgante, Angela Maria. Fatores genéticos associados à hipertensão em populações afrodescendentes. 2009. Exame de qualificação (Doutorando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Caíque Fernandes de Souza

ROSENBERG, C.. Dissecando o processo metastático em carcinomas epidermóides de cabeça e perscoço. 2009.

Aluno: Rodrigo Vieira Rodrigues

Vianna-Morgante, Angela Maria;ROSENBERG, C.. Epigenética e carncinomas epidermóides de cabeça e pescoço. 2009.

Aluno: Patrícia Benites Gonçalves da Silva

HADDAD, L. A.; CARRAMASCHI, L. V. P.;ROSENBERG, C.. Fator de transcrição OCT4 e propriedade tumorigênica de meduloblastoma. 2013. Exame de qualificação (Mestrando em Ciências Biológicas (Genética)) - Universidade de São Paulo.

Aluno: Uirá Souto Melo

Otto, P.A.ROSENBERG, C.Koiffmann, CP. Estudo epidemiologico e genético da surdez em dois municípios da Paraíba. 2012. Exame de qualificação (Mestrando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Mauren Fernanda Moller dos Santos

Mingroni-Netto, R.C.ROSENBERG, C.Bertola, D R. Estudo Genético de síndromes associadas à Obesidade. 2012. Exame de qualificação (Mestrando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Naja Vergani

Koiffmann, C.ROSENBERG, C.Mingroni-Netto, R.C.. Herança epigenética na inativação do cromossomo X. 2012. Exame de qualificação (Mestrando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Aluno: Joana Góes Castro Meira

ROSENBERG, C.; CARRAMASCHI, L. V. P.;Otto, P.A.. Relevância de testes genéticos no Sistema Único de Saúde. 2012. Exame de qualificação (Mestrando em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.

Orientou

Laura Machado Lara Carvalho

IDENTIFICAÇÃO DE NOVOS NOVAS VARIANTES E GENES ASSOCIADOS À OBESIDADE SINDRÔMICA E INVESTIGAÇÃO DE MECANISMOS MOLECULARES RELACIONADOS À SUA FISIOPATOLOGIA; Início: 2017; Tese (Doutorado em Genética Humana) - Instituto de Biociências - Universidade de São Paulo; (Orientador);

Darine Villela

Início: 2015; Instituto de Biociências - Universidade de São Paulo, Fundação de Amparo à Pesquisa do Estado de São Paulo;

Alexsandro Santos

SNP arrays na detecção de alterações estruturais e no número de cópias em pacientes portadores de deficiência intelectual idiopática; 2017; Dissertação (Mestrado em Biologia Genética) - Instituto de Biociências - Universidade de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico; Orientador: Carla Rosenberg;

Thaise Nayane Ribeiro Carneiro

Identificação da etiologia da deficiência intelectual esporádica por sequenciamento de exomas de afetados e seus pais; 2016; Dissertação (Mestrado em Biologia Genética) - Instituto de Biociências - Universidade de São Paulo, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Orientador: Carla Rosenberg;

Silvia Costa

Investigação da etiologia da deficiência intelectual de herança recessiva em irmandades de afetados; 2018; Tese (Doutorado em Genética Humana) - Instituto de Biociências - Universidade de São Paulo,; Orientador: Carla Rosenberg;

Tatiane Rodrigues

Anomalias genéticas e epigenéticas no tumor embrionário Hepatoblastoma; 2014; Tese (Doutorado em Ciências Biológicas (Genética)) - Universidade de São Paulo, Fundação de Amparo à Pesquisa do Estado de São Paulo; Orientador: Carla Rosenberg;

Darine Villela

Alterações Genômicas e Epigenômicas nas manifestações anatomopatológicas e cognitivas da Doença de Alzheimer; 2014; Tese (Doutorado em Ciências Biológicas (Genética)) - Universidade de São Paulo, Fundação de Amparo à Pesquisa do Estado de São Paulo; Orientador: Carla Rosenberg;

Ana Lucia Pereira Monteiro Catelani

Variação do Número de Cópias de segmentos de DNA (CNV) em pacientes com surdez sindrômica; 2010; Tese (Doutorado em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo,; Orientador: Carla Rosenberg;

Amanda Gonçalves Silva

2013; Universidade de São Paulo, Fundação de Amparo à Pesquisa do Estado de São Paulo; Carla Rosenberg;

Leonardo Capelli

Alterações no número de cópias de segmentos de DNA e avaliação do padrão de expressão de miRNAs em pacientes com câncer pediátrico associado a defeitos congênitos; 2009; Fundação Antônio Prudente, Fundação de Amparo à Pesquisa do Estado de São Paulo; Carla Rosenberg;

Erika Freitas

Alterações genômicas submicroscópicas investigadas por meio da técnica de array-CGH em quadros clínicos específicos : surdez hereditária não sindrômica e defeitos de desenvolvimento mülleriano; 2009; Universidade de São Paulo, Fundação de Amparo à Pesquisa do Estado de São Paulo; Carla Rosenberg;

Claúdia Carvalho

2007; Universidade de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico; Carla Rosenberg;

Ana Krepiski-Santos

2007; Universidade de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico; Carla Rosenberg;

Tales de Abreu

Perfil de desequilíbrios genômicos submicroscópicos em tumores de Wilms esporádicos com e sem recaída tumoral; 2010; Iniciação Científica; (Graduando em Ciências Biológicas) - Universidade de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico; Orientador: Carla Rosenberg;

Produções bibliográficas

MIGLIAVACCA, MICHELE P. ; SOBREIRA, JOSELITO ; BERMEO, DIANA ; GOMES, MIREILLE ; ALENCAR, DAYSE ; SUSSUCHI, LUCIANE ; SOUZA, CAMILA ALVES ; SILVA, JULIANA SANTOS ; KROLL, JOSÉ EDUARDO ; BURGER, MATHEUS ; GUARISCHI'SOUSA, RODRIGO ; VILLELA, DARINE ; YAMAMOTO, GUILHERME L. ; MILANEZI, FERNANDA ; HORIGOSHI, NELSON ; CESAR, REGINA GRIGOLLI ; DE CARVALHO, WERTHER BRUNOW ; HONJO, RACHEL SAYURI ; Bertola, Debora Romeo ; ROSENBERG, C. . Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil . AMERICAN JOURNAL OF MEDICAL GENETICS PART A , v. na, p. 1, 2024.
TOLEZANO, GIOVANNA CANTINI ; BASTOS, GIOVANNA CIVITATE ; DA COSTA, SILVIA SOUZA ; SCLIAR, MARÍLIA DE OLIVEIRA ; DE SOUZA, CAROLINA FISCHINGER MOURA ; VAN DER LINDEN JR, HÉLIO ; FERNANDES, WALTER LUIZ MAGALHÃES ; OTTO, PAULO ALBERTO ; Vianna-Morgante, Angela M. ; HADDAD, LUCIANA AMARAL ; HONJO, RACHEL SAYURI ; YAMAMOTO, GUILHERME LOPES ; Kim, Chong Ae ; Rosenberg, Carla ; JORGE, ALEXANDER AUGUSTO DE LIMA ; BERTOLA, DÉBORA ROMEO ; Krepischi, Ana Cristina Victorino . Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders. MOLECULAR NEUROBIOLOGY , v. na, p. 1, 2024.
CARVALHO, LAURA MACHADO LARA ; JORGE, ALEXANDER AUGUSTO DE LIMA ; BERTOLA, DÉBORA ROMEO ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla . A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis. CURRENT OBESITY REPORTS , v. na, p. 1, 2024.
CHAVES, LUIZA D. ; CARVALHO, LAURA M. L. ; TOLEZANO, GIOVANNA C. ; PIRES, SARA F. ; Costa, Silvia S. ; DE SCLIAR, MARÍLIA O. ; GIULIANI, LIANE DE R. ; Bertola, Debora R. ; SANTOS-REBOUÇAS, CÍNTIA B. ; SEO, GO HUN ; Otto, Paulo A. ; Rosenberg, Carla ; Vianna-Morgante, Angela M. ; KREPISCHI, ANA C. V. . Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants. MOLECULAR NEUROBIOLOGY , v. 60, p. 3758-3769, 2023.
CARVALHO, LAURA MACHADO LARA ; BRANCO, ELISA VARELLA ; SARAFIAN, RAQUEL DELGADO ; KOBAYASHI, GERSON SHIGERU ; DE ARAÚJO, FABIANO TÓFOLI ; SANTOS SOUZA, LUCAS ; MOREIRA, DANIELLE DE PAULA ; HSIA, GABRIELLA SHIH PING ; BERTOLLO, ENY MARIA GOLONI ; BUCK, CECÍLIA BARBOSA ; DA COSTA, SILVIA SOUZA ; FIALHO, DAVI MENDES ; DE VASCONCELOS, FELIPE TADEU GALANTE ROCHA ; BRITO, LUCIANO ABREU ; DE SOUZA FRAGA MACHADO, LUCIANA ELENA ; RAMOS, IGOR CABREIRA ; PEREIRA, LYGIA DA VEIGA ; KOIFFMANN, CELIA PRISZKULNIK ; E PASSOS-BUENO, MARIA RITA DOS SANTOS ; ROSENBERG, C. . Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome. GENE , v. 871, p. 147424, 2023.
MAZZONETTO, PATRICIA C. ; VILLELA, DARINE ; DA COSTA, SILVIA SOUZA ; KREPISCHI, ANA C. V. ; MILANEZI, FERNANDA ; MIGLIAVACCA, MICHELE P. ; PIERRY, PAULO M. ; BONALDI, ADRIANO ; ALMEIDA, LUIZ GUSTAVO D. ; DE SOUZA, CAMILA ALVES ; KROLL, JOSÉ EDUARDO ; PAULA, MARCELO G. ; GUARISCHI'SOUSA, RODRIGO ; SCAPULATEMPO'NETO, CRISTOVAM ; Rosenberg, Carla . Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting. ANNALS OF HUMAN GENETICS , v. na, p. 1, 2023.
FREIRE, BRUNA LUCHEZE ; HOMMA, THAIS KATAOKA ; LERARIO, ANTÔNIO MARCONDES ; SEO, GO HUN ; HAN, HEONJONG ; DE ASSIS FUNARI, MARIANA FERREIRA ; GOMES, NATHALIA LISBOA ; Rosemberg, Carla ; Krepischi, Ana Cristina Victorino ; DE ANDRADE VASQUES, GABRIELA ; MALAQUIAS, ALEXSANDRA CHRISTIANNE ; DE LIMA JORGE, ALEXANDER AUGUSTO . High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight. American Journal of Medical Genetics Part A , v. 188, p. 2599-2604, 2022.
KREPISCHI, ANA C. V. ; VILLELA, DARINE ; DA COSTA, SILVIA SOUZA ; MAZZONETTO, PATRICIA C. ; SCHAUREN, JULIANA ; MIGLIAVACCA, MICHELE P. ; MILANEZI, FERNANDA ; SANTOS, JULIANA G. ; GUIDA, GUSTAVO ; GUARISCHI-SOUSA, RODRIGO ; CAMPANA, GUSTAVO ; Kok, Fernando ; SCHLESINGER, DAVID ; KITAJIMA, JOAO PAULO ; CAMPAGNARI, FRANCINE ; Bertola, Debora R. ; Vianna-Morgante, Angela M. ; Pearson, Peter L. ; Rosenberg, Carla . Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports , v. 12, p. 15184, 2022.
MA, CONGCONG ; CHEN, NA ; JOLLY, ANGAD ; ZHAO, SEN ; COBAN-AKDEMIR, ZEYNEP ; TIAN, WEIJIE ; KANG, JIA ; YE, YANG ; WANG, YUAN ; KOCH, ANDRÉ ; ZHANG, YUANQIANG ; QIN, CHENGLU ; BONILLA, XIMENA ; BOREL, CHRISTELLE ; RALL, KATHARINA ; CHEN, ZEFU ; JHANGIANI, SHALINI ; NIU, YUCHEN ; LI, XIAOXIN ; ROSENBERG, C. . Functional characteristics of a broad spectrum of TBX6variants in Mayer-Rokitansky-Küster-Hauser syndrome. GENETICS IN MEDICINE , v. 24, p. 2262-2273, 2022.
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MOREIRA, ELOISA S. ; SILVA, ISABELA M.W. ; LOURENÇO, NAILA ; MOREIRA, DANIELLE P. ; RIBEIRO, CINTIA M. ; MARTINS, ANA LUIZA B. ; GRIESI-OLIVEIRA, KARINA ; LAZAR, MONIZE ; Costa, Silvia S. ; NASLAVSKY, MICHEL S. ; ROCHA, KÁTIA M. ; AGUENA, MEIRE ; FETT-CONTE, AGNES C. ; ZATZ, MAYANA ; Rosenberg, Carla ; ZACHI, ELAINE C. ; BERTOLA, DÉBORA R. ; VADASZ, ESTEVÃO ; PASSOS-BUENO, MARIA RITA . Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH). RES AUTISM SPECT DIS , v. 23, p. 145-151, 2016.
MORRIS, MARCOS L.M. ; BARONEZA, JOS' E. ; TEIXEIRA, PATRICIA ; MEDINA, CRISTINA T.N. ; CORDOBA, MARA S. ; VERSIANI, BEATRIZ R. ; ROESE, LIEGE L. ; FREITAS, ERIKA L. ; FONSECA, ANA C.S. ; DOS SANTOS, MARIA C.G. ; PIC-TAYLOR, ALINE ; Rosenberg, Carla ; OLIVEIRA, SILVIENE F. ; FERRARI, IRIS ; Mazzeu, Juliana F. . Partial 1q Duplications and Associated Phenotype. Molecular Syndromology , v. 6, p. 297-303, 2016.
KREPISCHI, A. C. V. ; MASCHIETTO, M. ; FERREIRA, E. N. ; SILVA, A. G. ; COSTA, S. S. ; DA CUNHA, I. W. ; BARROS, B. D. F. ; GRUNDY, P. E. ; Rosenberg, C. ; CARRARO, D. M. . Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors. Molecular Cytogenetics , v. 9, p. 1-10, 2016.
VILLELA, DARINE ; RAMALHO, RODRIGO F. ; SILVA, ADERBAL R. T. ; Brentani, Helena ; SUEMOTO, CLAUDIA K. ; PASQUALUCCI, CARLOS AUGUSTO ; GRINBERG, LEA T. ; KREPISCHI, ANA C. V. ; Rosenberg, Carla . Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer?s Disease Individuals. Neural Plasticity (Online) , v. 2016, p. 1-10, 2016.
FIDALGO, FELIPE ; RODRIGUES, TATIANE CRISTINA ; SILVA, AMANDA GONÇALVES ; MOREDO FACURE, LUCIANA ; DE SÁ, BIANCA COSTA SOARES ; DUPRAT, JOÃO PEDREIRA ; ACHATZ, MARIA ISABEL ; Rosenberg, Carla ; CARRARO, DIRCE MARIA ; Krepischi, Ana Cristina Victorino . Role of rare germline copy number variation in melanoma-prone patients. Future Oncology , v. 12, p. 1345-1357, 2016.
VILLELA, DARINE ; SUEMOTO, CLAUDIA K. ; PASQUALUCCI, CARLOS A. ; GRINBERG, LEA T. ; Rosenberg, Carla . Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer?s Disease?. Frontiers in Genetics , v. 7, p. 10.3389/fgene.2, 2016.
LINHARES, NATÁLIA D. ; VALADARES, EUGÊNIA R. ; DA COSTA, SILVIA S. ; ARANTES, RODRIGO R. ; DE OLIVEIRA, LUIZ ROBERTO ; Rosenberg, Carla ; Vianna-Morgante, Angela M. ; SVARTMAN, MARTA . Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization. Meta Gene , v. 9, p. 185-190, 2016.
MASCHIETTO, MARIANA ; RODRIGUES, TATIANE CRISTINA ; KASHIWABARA, ANDRÉ YOSHIAKI ; SOUZA DE ARAUJO, ÉRICA SARA ; MARQUES AGUIAR, TALITA FERREIRA ; LIMA DA COSTA, CECILIA MARIA ; DA CUNHA, ISABELA WERNECK ; REIS VASQUES, LUCIANA DOS ; CYPRIANO, MONICA ; Brentani, Helena ; CAMINADA DE TOLEDO, SILVIA REGINA ; Pearson, Peter Lees ; CARRARO, DIRCE MARIA ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino . DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations. OncoTarget , v. online, p. online, 2016.
GAMBA, BRUNO F. ; ZECHI-CEIDE, ROSELI M. ; KOKITSU-NAKATA, NANCY M. ; VENDRAMINI-PITTOLI, SIULAN ; Rosenberg, Carla ; KREPISCHI SANTOS, ANA C.V. ; RIBEIRO-BICUDO, LUCILENE ; RICHIERI-COSTA, ANTONIO . Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability. Molecular Syndromology , v. 7, p. 344-348, 2016.
DE ARAÚJO, ÉRICA S.S. ; KASHIWABARA, ANDRÉ Y. ; ACHATZ, MARIA I.W. ; MOREDO, LUCIANA F. ; DE SÁ, BIANCA C.S. ; DUPRAT, JOÃO P. ; Rosenberg, Carla ; CARRARO, DIRCE M. ; Krepischi, Ana C.V. . LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis. Melanoma Research , v. 25, p. 173-177, 2015.
GAMBA, BRUNO F. ; Rosenberg, Carla ; COSTA, SILVIA ; RICHIERI-COSTA, ANTONIO ; RIBEIRO-BICUDO, LUCILENE A. . Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14. Molecular Syndromology , v. 6, p. 39-43, 2015.
LINHARES, NATÁLIA D. ; SVARTMAN, MARTA ; RODRIGUES, TATIANE C. ; Rosenberg, Carla ; VALADARES, EUGÊNIA R. . Subtelomeric 6p25 deletion/duplication: report of a patient with new clinical findings and genotype-phenotype correlations. European Journal of Medical Genetics , v. 58, p. 310, 2015.
MACHADO, CAMILA OLIVEIRA FREITAS ; GRIESI-OLIVEIRA, KARINA ; Rosenberg, Carla ; Kok, Fernando ; MARTINS, STEPHANIE ; RITA PASSOS-BUENO, MARIA ; SERTIE, ANDREA LAURATO . Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. European Journal of Human Genetics , v. epuh, p. ahead of print, 2015.
DANTAS, VITOR G.L. ; FREITAS, ERIKA L. ; DELLA-ROSA, VALTER A. ; LEZIROVITZ, KARINA ; DE MORAES, ANA MARIA S.M. ; RAMOS, SILVIA B. ; OITICICA, JEANNE ; ALVES, LEANDRO U. ; Pearson, Peter L. ; Rosenberg, Carla ; MINGRONI-NETTO, REGINA C. . Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. International Journal of Audiology , v. 54, p. 1-6, 2015.
DE ARAÚJO, ÉRICA S. S. ; PRAMIO, DIMITRIUS T. ; KASHIWABARA, ANDRÉ Y. ; PENNACCHI, PAULA C. ; MARIA-ENGLER, SILVYA S. ; ACHATZ, MARIA I. ; CAMPOS, ANTONIO H. J. F. M. ; DUPRAT, JOÃO P. ; Rosenberg, Carla ; CARRARO, DIRCE M. ; KREPISCHI, ANA C. V. . DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients. BIOMED RES INT , v. 2015, p. 1-8, 2015.
Rosenberg, Carla ; Freitas, Érika L. ; UEHARA, DANIELA T. ; AURICCHIO, MARIA TERESA B. M. ; Costa, Silvia S. ; OITICICA, JEANNE ; SILVA, AMANDA G. ; Krepischi, Ana C. ; MINGRONI-NETTO, REGINA C. . Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss. Clinical Genetics , v. oct, p. n/a-n/a, 2015.
GAMBA, BRUNO FAULIN ; RICHIERI-COSTA, ANTÔNIO ; COSTA, SILVIA ; Rosenberg, Carla ; RIBEIRO-BICUDO, LUCILENE ARILHO . Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics (Print) , v. jun, p. 1, 2015.
FONSECA, SIMONE APARECIDA SIQUEIRA ; COSTAS, ROBERTA MONTERO ; MORATO-MARQUES, MARIANA ; COSTA, SILVIA ; ALEGRETTI, JOSE ROBERTO ; Rosenberg, Carla ; DA MOTTA, EDUARDO LEME ALVES ; SERAFINI, PAULO C. ; PEREIRA, LYGIA V. . A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo. Plos One , v. 10, p. e0140999, 2015.
FONTES, MARSHALL I. B. ; SANTOS, ANA P. ; MOLCK, MIRIAM C. ; Simioni, Milena ; NASCIMENTO, DIOGO L. L. ; ANDRADE, ANA K. M. ; Rosenberg, Carla ; KREPISCHI, ANA C. V. ; APPENZELLER, SIMONE ; MONLLEÓ, ISABELLA L. ; Gil-da-Silva-Lopes, Vera Lúcia . Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature. American Journal of Medical Genetics. Part A , v. A Dec, p. n/a-n/a, 2015.
FARIA, ÁGATHA CRISTHINA ; RABBI-BORTOLINI, ELIETE ; REBOUÇAS, MARIA R. G. O. ; PEREIRA, ANDRÉIA L. A. DE S. THIAGO ; FRASSON, MILENA G. TONINI ; ATIQUE, RODRIGO ; LOURENÇO, NAILA CRISTINA V. ; Rosenberg, Carla ; KOBAYASHI, GERSON S. ; PASSOS-BUENO, MARIA RITA ; ERRERA, FLÁVIA IMBROISI VALLE . Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?. American Journal of Medical Genetics. Part A , v. Nov 14, p. n/a-n/a, 2015.
Freitas, Érika L. ; OITICICA, JEANNE ; SILVA, AMANDA G. ; BITTAR, ROSELI S.M. ; Rosenberg, Carla ; MINGRONI-NETTO, REGINA C. . Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss. European Journal of Medical Genetics , v. 57, p. 125-128, 2014.
DOS SANTOS, POLLYANNA ALMEIDA COSTA ; DE OLIVEIRA, SILVIENE FABIANA ; FREITAS, ERIKA L. ; SAFATLE, HELOISA PIRES NETO ; Rosenberg, Carla ; FERRARI, IRIS ; MAZZEU, JULIANA FORTE . Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum. American Journal of Medical Genetics. Part A , v. 164, p. 551-553, 2014.
Silva, Amanda G ; Krepischi, Ana CV ; Pearson, Peter L ; HAINAUT, PIERRE ; Rosenberg, Carla ; ACHATZ, MARIA ISABEL . The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations. Orphanet Journal of Rare Diseases , v. 9, p. 63, 2014.
LINHARES, NATÁLIA D. ; SVARTMAN, MARTA ; SALGADO, MAURO IVAN ; RODRIGUES, TATIANE C. ; DA COSTA, SILVIA S. ; Rosenberg, Carla ; VALADARES, EUGÊNIA R. . Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene. Meta Gene , v. 2, p. 16-24, 2014.
CANTON, A. P. M. ; COSTA, S. S. ; RODRIGUES, T. C. ; BERTOLA, D. R. ; MALAQUIAS, A. C. ; CORREA, F. A. ; ARNHOLD, I. J. P. ; Rosenberg, C. ; JORGE, A. A. L. . Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. European Journal of Endocrinology , v. 171, p. 253-262, 2014.
CARVALHO, CLAUDIAM.B. ; VASANTH, SHIVAKUMAR ; SHINAWI, MARWAN ; RUSSELL, CHAD ; RAMOCKI, MELISSAB. ; BROWN, CHESTERW. ; GRAAKJAER, JESPER ; SKYTTE, ANNE-BINE ; VIANNA-MORGANTE, ANGELAM. ; KREPISCHI, ANAC.V. ; PATEL, GAYLES. ; IMMKEN, LADONNA ; ALECK, KYRIECKOS ; LIM, CYNTHIA ; CHEUNG, SAUWAI ; Rosenberg, Carla ; KATSANIS, NICHOLAS ; LUPSKI, JAMESR. . Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics , v. 95, p. 565-578, 2014.
DE ARAÚJO, ÉRICA SARA SOUZA ; MARCHI, FABIO ALBUQUERQUE ; RODRIGUES, TATIANE CRISTINA ; VIEIRA, HENRIQUE CURSINO ; KUASNE, HELLEN ; ACHATZ, MARIA ISABEL WADDINGTON ; MOREDO, LUCIANA FACURE ; DE SÁ, BIANCA COSTA SOARES ; DUPRAT, JOÃO PEREIRA ; BRENTANI, HELENA PAULA ; Rosenberg, Carla ; CARRARO, DIRCE MARIA ; Krepischi, Ana Cristina Victorino . Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations. Experimental and Molecular Pathology (Print) , v. 97, p. 425-432, 2014.
DE ROCKER, NINA ; VERGULT, SARAH ; KOOLEN, DAVID ; JACOBS, EVA ; HOISCHEN, ALEXANDER ; ZEESMAN, SUSAN ; BANG, BIRGITTE ; BÉNA, FRÉDÉRIQUE ; BOCKAERT, NELE ; BONGERS, ERNIE M. ; DE RAVEL, THOMY ; DEVRIENDT, KOENRAAD ; GIGLIO, SABRINA ; FAIVRE, LAURENCE ; JOSS, SHELAGH ; MAAS, SASKIA ; MARLE, NATHALIE ; NOVARA, FRANCESCA ; NOWACZYK, MALGORZATA J.M. ; ROSENBERG, C. . Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genetics in Medicine , v. epub, p. ahead of print, 2014.
FIDALGO, FELIPE ; RODRIGUES, TATIANE CRISTINA ; PINILLA, MABEL ; SILVA, AMANDA GONÇALVES ; MACIEL, MARIA DO SOCORRO ; Rosenberg, Carla ; DE ANDRADE, VICTOR PIANA ; CARRARO, DIRCE MARIA ; Krepischi, Ana Cristina Victorino . Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast. Tumor Biology , v. 36, p. 1835, 2014.
Krepischi, Ana Cristina Victorino ; CAPELLI, LEONARDO PIRES ; SILVA, AMANDA GONÇALVES ; DE ARAÚJO, ÉRICA SARA SOUZA ; Pearson, Peter Lees ; HECK, BENJAMIN ; DA COSTA, CECÍLIA MARIA LIMA ; DE CAMARGO, BEATRIZ ; Rosenberg, Carla . Large germline copy number variations as predisposing factor in childhood neoplasms. Future Oncology , v. 10, p. 1627-1633, 2014.
VILLELA, DARINE ; SCHLESINGER, DAVID ; SUEMOTO, CLAUDIA K. ; GRINBERG, LEA T. ; Rosenberg, Carla . A microdeletion in Alzheimers disease disrupts NAMPT gene. Journal of Genetics , v. 93, p. 535-537, 2014.
RODRIGUES, TATIANE CRISTINA ; FIDALGO, FELIPE ; LIMA DA COSTA, CECILIA MARIA ; FERREIRA, ELISA NAPOLITANO ; DA CUNHA, ISABELA WERNECK ; CARRARO, DIRCE MARIA ; VICTORINO KREPISCHI, ANA CRISTINA ; Rosenberg, Carla . Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas. Future Oncology , v. 10, p. 2449-2457, 2014.
LAURELL, TOBIAS ; LUNDIN, JOHANNA ; ANDERLID, BRITT-MARIE ; GORSKI, JEROME L ; GRIGELIONIENE, GIEDRE ; KNIGHT, SAMANTHA J L ; Krepischi, Ana C V ; Krepischi, A.C.V. ; NORDENSKJÖLD, AGNETA ; PRICE, SUSAN M ; ROSENBERG, C. ; TURNPENNY, PETER D ; Vianna-Morgante, Angela M ; NORDGREN, ANN . Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics , v. x, p. x, 2013.
Silva, Amanda G ; Krepischi, Ana CV ; TORREZAN, GIOVANA T ; CAPELLI, LEONARDO P ; Carraro, Dirce M ; D'ANGELO, CARLA S ; KOIFFMANN, CELIA P ; ZATZ, MAYANA ; NASLAVSKY, MICHEL S ; MASOTTI, CIBELE ; OTTO, PAULO A ; ACHATZ, MARIA IW ; MILLS, RYAN E ; LEE, CHARLES ; Pearson, Peter L ; Rosenberg, Carla . Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?. European Journal of Human Genetics , v. 1, p. 1, 2013.
IZZO, GISELLE ; Freitas, Érika L. ; Krepischi, Ana Cristina V. ; Pearson, Peter L. ; VASQUES, LUCIANA R. ; PASSOS-BUENO, MARIA RITA S. ; BERTOLA, DÉBORA R. ; Rosenberg, Carla . A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate. European Journal of Medical Genetics , v. 1, p. 1, 2013.
Silva, Amanda G ; Lisboa, Bianca C G ; Achatz, Maria Isabel W ; Carraro, Dirce M ; DA CUNHA, ISABELA W ; Pearson, Peter L ; Krepischi, Ana C V ; Rosenberg, Carla . Germline BAX Deletion in a Patient With Melanoma and Gastrointestinal Stromal Tumor. The American Journal of Gastroenterology , v. 108, p. 1372-1375, 2013.
SANDBACKA, MARIA ; LAIVUORI, HANNELE ; FREITAS, ÉRIKA ; HALTTUNEN, MERVI ; JOKIMAA, VARPU ; MORIN-PAPUNEN, LAURE ; Rosenberg, Carla ; AITTOMÄKI, KRISTIINA . TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia. Orphanet Journal of Rare Diseases , v. 8, p. 125, 2013.
COSTA, ANA ROSA DA SILVEIRA ; VASUDEVAN, ANUPAMA ; KREPISCHI, ANA ; Rosenberg, Carla ; CHAUFFAILLE, MARIA DE LOURDES L. F. . Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia. Medical Oncology , v. 30, p. 579, 2013.
DORNELLES-WAWRUK, H. ; PIC-TAYLOR, A. ; Rosenberg, C. ; Krepischi, A.C.V. ; SAFATLE, H.P.N. ; FERRARI, I. ; Mazzeu, J.F. . Complex Phenotype Associated with 17q21.31 Microdeletion. Molecular Syndromology , v. 4, p. 297-301, 2013.
SILVA, AMANDA GONÇALVES ; MASCHIETTO, MARIANA ; VIDAL, DANIEL ONOFRE ; PELIÇARIO, LEANDRO MOTA ; VELLOSO, ELVIRA DEOLINDA RODRIGUES PEREIRA ; LOPES, LUIZ FERNANDO ; KREPISCHI, ANA CRISTINA ; Rosenberg, Carla . Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML. Medical Oncology (Northwood) , v. 30, p. 734, 2013.
VILLELA, DARINE ; KIMURA, LILIAN ; SCHLESINGER, DAVID ; GONÇALVES, AMANDA ; Pearson, Peter L. ; SUEMOTO, CLAUDIA K. ; PASQUALUCCI, CARLOS ; KREPISCHI, ANA CRISTINA ; GRINBERGAND, LEA T. ; Rosenberg, Carla . Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. Genetics and Molecular Biology (Impresso) , v. 36, p. 498-501, 2013.
Molin, A.-M. ; Andrieux, J. ; Koolen, D. A. ; Malan, V. ; Carella, M. ; Colleaux, L. ; Cormier-Daire, V. ; David, A. ; de Leeuw, N. ; Delobel, B. ; Duban-Bedu, B. ; Fischetto, R. ; Flinter, F. ; Kjaergaard, S. ; KOK, F. ; Krepischi, A. C. ; Le Caignec, C. ; Ogilvie, C. M. ; Maia, S. ; ROSENBERG, C. . A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics (Print) , v. 49, p. 104-109, 2012.
Krepischi, Ana C V ; Achatz, Maria Isabel W ; Santos, Erika M M ; Costa, Silvia S ; Lisboa, Bianca C G ; Brentani, Helena ; Santos, Tiago M ; Goncalves, Amanda ; Nobrega, Amanda F ; Pearson, Peter L ; Vianna-Morgante, Angela M ; Carraro, Dirce M ; Brentani, Ricardo R ; Rosenberg, Carla . Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Research (Print) , v. 14, p. R24, 2012.
Krepischi, Ana Cristina Victorino ; Pearson, Peter Lees ; Rosenberg, Carla . Germline copy number variations and cancer predisposition. Future Oncology , v. 8, p. 441-450, 2012.
Freitas, Érika L. ; Prigmore, Elena ; ROSENBERG, C. ; Melo, Débora G. ; Gil-da-Silva-Lopes, Vera Lúcia ; Vieira, Társis P. ; Krepischi, A.C.V. ; Krepischi, Ana C. ; Gribble, Susan M. ; Pearson, Peter L. ; Simioni, Milena ; Rosenberg, Carla . A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics , v. 2012, p. 1, 2012.
Gonalves, Amanda ; SILVA, A. G. S. ; Goncalves, Amanda ; Rosenberg, C ; Krepischi, Ana C.V. ; Teixeira, Manuel R ; Pinheiro, Manuela ; Carraro, Dirce M ; Krepischi, Ana CV ; Nobrega, Amanda F ; Sapienza, Marina ; Peixoto, Ana ; Achatz, Maria Isabel W ; ROSENBERG, C. ; Ewald, Ingrid P ; Ashton-Prolla, Patricia . Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion. BMC Cancer (Online) , v. 12, p. 237, 2012.
Simioni, Milena ; VIEIRA, TÁRSIS PAIVA ; SGARDIOLI, ILÁRIA CRISTINA ; FREITAS, ÉRIKA LOPES ; Rosenberg, Carla ; MAURER-MORELLI, CLÁUDIA VIANNA ; LOPES-CENDES, ISCIA ; FETT-CONTE, AGNES CRISTINA ; Gil-da-Silva-Lopes, Vera Lúcia . Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. American Journal of Medical Genetics. Part A , v. 158A, p. 2905-2910, 2012.
Sens-Abuazar C ; FERREIRA, E. N. ; Osorio CA ; Krepischi, A. C. ; Ricca TI ; Castro NP ; da Cunha IW ; Maciel MS ; Rosenberg C ; Brentani MM ; Soares FA ; Rocha RM ; Carraro, Dirce M . Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast. Translational Oncology (Online) , v. 5, p. 113, 2012.
SILVA, A. G. S. ; Silva, Amanda G ; ACHATZ, MARIA ISABEL ; Krepischi, Ana CV ; Pearson, Peter L ; ROSENBERG, C. . Number of rare germline CNVs and TP53mutation types. Orphanet Journal of Rare Diseases , v. 7, p. 101, 2012.
ROSENBERG, C. ; RODRIGUES, T. C. ; RODRIGUES, T.C. ; KREPISCHI, A.C.V. ; MASCHIETTO, M. ; COSTA, C.M.L. ; CARRARO, D.M. . 596 Genetic and Epigenetic Alterations in the Embrionary Tumor Hepatoblastoma. European Journal of Cancer , v. 48, p. S142, 2012.
Jaillard, Sylvie ; Andrieux, Joris ; Plessis, Ghislaine ; Krepischi, A.C.V. ; Krepischi, Ana C.V. ; Lucas, Josette ; David, Véronique ; Le Brun, Marine ; Bertola, Debora R. ; David, Albert ; Belaud-Rotureau, Marc-Antoine ; Mosser, Jean ; Lazaro, Leila ; Treguier, Catherine ; ROSENBERG, C. ; Odent, Sylvie ; Dubourg, Christèle . 5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics. Part A , v. 155, p. 725-731, 2011.
Freitas, Érika L. ; Gribble, Susan M. ; Simioni, Milena ; Vieira, Társis P. ; Silva-Grecco, Roseane L. ; Balarin, Marly A. S. ; Prigmore, Elena ; Krepischi-Santos, Ana C. ; Krepischi, A.C.V. ; ROSENBERG, C. ; Szuhai, Karoly ; van Haeringen, Arie ; Carter, Nigel P. ; Gil-da-Silva-Lopes, Vera Lúcia . Maternally inherited partial monosomy 9p (pterp24.1) and partial trisomy 20p (pterp12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics. Part A , p. n/a-n/a, 2011.
Capelli, Leonardo P. ; Krepischi, A.C.V. ; Krepischi, Ana C.V. ; Gurgel-Giannetti, Juliana ; Mendes, Mirian Fabiola S. ; Rodrigues, Tatiane ; Varela, Monica C. ; Koiffmann, Célia P. ; ROSENBERG, C. . Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. European Journal of Medical Genetics , v. x, p. x, 2011.
Miller, David T. ; Adam, Margaret P. ; Aradhya, Swaroop ; Biesecker, Leslie G. ; Brothman, Arthur R. ; Carter, Nigel P. ; Church, Deanna M. ; Crolla, John A. ; Eichler, Evan E. ; Epstein, Charles J. ; Rosenberg, Carla . Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. American Journal of Human Genetics , v. 86, p. 749-764, 2010.
Krepischi, Ana Cristina V. ; Rosenberg, Carla ; Costa, Silvia S. ; Crolla, John A. ; Huang, Shuwen ; Vianna-Morgante, Angela M. . A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. American Journal of Medical Genetics. Part A , p. n/a-n/a, 2010.
Krepischi, Ana Cristina Victorino ; Knijnenburg, Jeroen ; Bertola, Debora Romeo ; Kim, Chong Ae ; Pearson, Peter Lees ; Bijlsma, Emilia ; Szuhai, Karoly ; Kok, Fernando ; Vianna-Morgante, Angela Maria ; Rosenberg, Carla . Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia (Copenhagen) , v. 51, p. 2457-2460, 2010.
Lugtenberg, Dorien ; Zangrande-Vieira, Luiz ; Kirchhoff, Maria ; Whibley, Annabel C. ; Oudakker, Astrid R. ; Kjaergaard, Susanne ; Vianna-Morgante, Angela M. ; Kleefstra, Tjitske ; Ruiter, Mariken ; Jehee, Fernanda S. ; Ullmann, Reinhard ; Schwartz, Charles E. ; Stratton, Michael ; Raymond, F. Lucy ; Veltman, Joris A. ; Vrijenhoek, Terry ; Pfundt, Rolph ; Schuurs-Hoeijmakers, Janneke H.M. ; Hehir-Kwa, Jayne Y. ; ROSENBERG, C. . Recurrent deletion of at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A , v. 152A, p. 638-645, 2010.
MAZZEU, J. F. ; VIANNA-MORGANTE, A. M. ; KREPISCHI-SANTOS, A. C. V. ; Oudakker, A ; ROSENBERG, C. ; Szuhai, Karoly ; McGill J ; McGraughan J ; van Bokhoven, Hans ; BRUNNER, HG. . Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics , v. 77, p. 404-407, 2010.
Krepischi-Santos, A.C.V. ; Rajan, D. ; Temple, I.K. ; Shrubb, V. ; Crolla, J.A. ; Huang, S. ; Beal, S. ; Otto, P.A. ; Carter, N.P. ; Vianna-Morgante, A.M. ; Rosenberg, C. . Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1. Cytogenetic and Genome Research (Online) , v. 125, p. 1-7, 2009.
Catelani, ALPM ; Krepischi, ACV ; Kim, CA ; Kok, F ; Otto, PA ; Auricchio, MTBM ; Mazzeu, JF ; MAZZEU, J. F. ; Uehara, DT ; Costa, SS ; Knijnenburg, J ; Tabith, A ; Vianna-Morgante, AM ; Mingroni-Netto, RC ; ROSENBERG, C. . Chromosome imbalances in syndromic hearing loss. Clinical Genetics , v. 76, p. 458-464, 2009.
Koolen, D. A ; Sharp, A. J ; Hurst, J. A ; Firth, H. V ; Knight, S. J. ; Goldenberg, A. ; Saugier-Veber, P. ; Pfundt, R. ; Vissers, L. E. ; Destree, A. ; Grisart, B. ; Rooms, L. ; Van der Aa, N. ; Field, M. ; Hackett, A. ; Bell, K. ; Nowaczyk, M. J. ; Mancini, G. M. ; Poddighe, P. J ; ROSENBERG, C. . Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics , p. in press, 2008.
Bauters, M. ; Van Esch, H. ; Friez, M. J. ; Boespflug-Tanguy, O. ; Zenker, M. ; Vianna-Morgante, A. M. ; Rosenberg, C. ; Ignatius, J. ; Raynaud, M. ; Hollanders, K. ; Govaerts, K. ; Vandenreijt, K. ; Niel, F. ; Blanc, P. ; Stevenson, R. E. ; Fryns, J.-P. ; Marynen, P. ; Schwartz, C. E. ; FROYEN, G. . Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Research , v. 18, p. 847-858, 2008.
Jehee, F S ; Krepischi-Santos, A C V ; Rocha, K M ; Cavalcanti, D P ; Kim, C A ; Bertola, D R ; Alonso, L G ; D&amp ; Mazzeu, J F ; Froyen, G ; Lugtenberg, D ; VIANNA-MORGANTE, A M ; Rosenberg, C ; Passos-Bueno, M R . High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of Medical Genetics , v. 45, p. 447-450, 2008.
Mazzeu, JF ; Krepischi-Santos, A. C ; Rosenberg, C ; Lourenço, C ; Lezirovitz, K ; SZUHAI, K ; Martelli, L ; Vianna-Morgante, A. M . Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes. Genetics and Molecular Biology (Impresso) , v. 30, p. 339-342, 2008.
SZUHAI, K ; IJSZENGA, M ; TANKE, H J ; TAMINIAU, A H ; SCHEPPER, A. ; DUINEN, S. V. ; ROSENBERG, C. ; HOGENDOORN, P C W . Detection and molecular cytogenetic characterization of a novel ring chromosome in a histological variant of Ewing sarcoma. Cancer Genetics and Cytogenetics , v. 172, p. 12-22, 2007.
Hoffer, MJ ; HILHORST-HOFSTEE, Y ; KNIJNENBURG, J ; HANSSON, K ; Engelberts, AC ; LAAN, LA ; BAKKER, e ; ROSENBERG, C. . A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. European Journal of Medical Genetics , v. 50, p. 149-154, 2007.
KNIJNENBURG, J ; van HAERINGEN, A. ; HANSSON, K ; LANKESTER, A ; SMIT, MJ ; BELFROID, RD ; BAKKER, e ; ROSENBERG, C. ; TANKE, H J ; SZUHAI, K . Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. European Journal of Medical Genetics , v. 15, p. 548-555, 2007.
KRIEK, M. ; KNIJNENBURG, J ; WHITE, S. ; ROSENBERG, C. ; DUNNEN, J T Den ; OMMEN, G J Van ; TANKE, H J ; BREUNING, M H ; SZUHAI, K . Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH. American Journal of Medical Genetics. Part A , v. 143, p. 610-614, 2007.
ULMANN, R ; TURNER, G ; Kirchhoff, M ; CHEN, W ; TONGE, B ; ROSENBERG, C. ; FIELD, M ; VIANNA-MORGANTE, A M ; CHRISTIE, L ; KREPISCHI-SANTOS, A. C. V. ; BANNA, L ; BRERETON, AV ; HILL, A ; BISGAARD, AM . Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation , v. 28, p. 674-682, 2007.
L, R. ; MILA, M. ; ROSENBERG, C. ; Lee C . Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.. Genetics in Medicine , v. 9, p. 600-6006, 2007.
Cheroki, C ; Krepischi-Santos, A C V ; SZUHAI, K ; Brenner, V ; Kim, C A E ; OTTO, P A ; Rosenberg, C . Genomic imbalances associated with mullerian aplasia. Journal of Medical Genetics , v. 45, p. 228-232, 2007.
MAZZEU, J. F. ; Mazzeu, Juliana F. ; Krepischi-Santos, Ana Cristina ; ROSENBERG, C. ; Szuhai, Karoly ; Knijnenburg, Jeroen ; Weiss, Janneke M.M. ; Kerkis, Irina ; Mustacchi, Zan ; Colin, Guilherme ; Mombach, Rômulo ; Pavanello, Rita de Cássia M. ; Otto, Paulo A. ; Vianna-Morgante, Angela M. . Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. American Journal of Medical Genetics. Part A , v. 143A, p. 1790-1795, 2007.
CHEROKI, C. ; KREPISCHI-SANTOS, A. C. V. ; ROSENBERG, C. ; JEHEE, F. ; MINGRONI NETTO, R C ; PAVANELLO FILHO, I. ; ZANFORLIN FILHO, S. ; KIM, C. A. ; BAGNOLI, V. R. ; MOLENAAR, L ; MENDONCA, B B ; SZUHAI, K ; OTTO, P A . Report of a del22q11 in a Patient With Mayer-Rokitansky-Kuster-Hauser (MRKH) Anomaly and Exclusion of WNT-4, RAR-gamma, and RXR-alpha as Major Genes Determining MRKH Anomaly in a Study of 25 Affected Women. American Journal of Medical Genetics , v. 140A, p. 1339-1342, 2006.
KREPISCHI-SANTOS, A. C. V. ; VARELA, M. C. ; PAZ, J. A. ; KINIJNENBURG, J ; SZUHAI, K ; ROSENBERG, C. ; Koiffmann, CP . A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenetic and Genome Research , v. 114, p. 89-92, 2006.
SHAW-SMITH, C. ; PITTMAN, A. M. ; WILLATT, L ; MARTIN, H. ; RICKMAN, L. ; GRIBBLE, S. ; CURLEY, R. ; CUMING, S. ; DUNN, C. ; KALAITZOPOULOS, D. ; PORTER, K. ; PRIGMORE, E. ; KREPISCHI-SANTOS, A. C. V. ; ROSENBERG, C. ; CARTER, N. P. . Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.. Nature Genetics , v. 38, p. 1032-1037, 2006.
KREPISCHI-SANTOS, A. C. V. ; VIANNA-MORGANTE, A M ; JEHEE, F. ; CHEROKI, C. ; OTTO, P A ; KOK, F. ; KNIJNENBURG, J ; ROSENBERG, C. . Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.. Cytogenetics and Cell Genetics , v. 115, p. 254-261, 2006.
DEKKEN, Herman Van ; VISSERS, K ; TILANUS, H W ; GRAY, J ; Kuo WL ; TANKE, H J ; ROSENBERG, C. ; IJSZENGA, M ; SZUHAI, K . Genomic array and expression analysis of frequent high-level amplifications in adenocarcinomas of the gastro-esophageal junction. Cancer Genetics and Cytogenetics , v. 166, p. 157-162, 2006.
SZUHAI, K ; IJSZENGA, M ; TANKE, H J ; ROSENBERG, C. ; HOGENDOORN, P C W . Molecular cytogenetic characterization of four previously established and two newly established Ewing sarcoma cell lines. Cancer Genetics and Cytogenetics , v. 166, p. 173-179, 2006.
Rozeman LB ; SZUHAI, K ; SCHRAGE, ; ROSENBERG, C. ; TANKE, H J ; TAMINIAU, A H ; CLETON-JANSEN, Am ; BOVEE,, J. G. M. V ; HOGENDOORN, P C W . Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.. Cancer , v. 107, p. 380-388, 2006.
KRIEK, M. ; SZUHAI, K ; Kant SG ; WHITE, S. ; DAUWERSE, H. ; FIEGLER, H. ; CARTER, N. P. ; KNIJNENBURG, J ; DUNNEN, J T Den ; TANKE, J H ; BREUNING, M H ; ROSENBERG, C. . A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. Human Genetics , v. 120, p. 77-84, 2006.
Dijkman R ; TENSEN, C.T. ; JORDANOVA, E.F ; KNIJNENBURG, J ; HOEFNAGEL, J. ; MULDER, A.A. ; ROSENBERG, C. ; RAAP, A K ; WILLEMZE, R. ; SZUHAI, K ; VERMEER, M.H. . Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. Journal of Clinical Oncology , v. 24, p. 296-305, 2006.
CARDOSO, J. ; MOLENAAR, L ; MENEZES, R. ; LEERDAM, M. ; ROSENBERG, C. ; MOSLEIN, G. ; SAMPSON, J. ; MORREAU, H ; BOER, J.M. ; FODDE, R . Chromosomal instability in MYH- and APC-mutant adenomatous polyps. Cancer Research , v. 66, p. 2514-2519, 2006.
Krepischi-Santos, A.C.V. ; Vianna-Morgante, A.M. ; Jehee, F.S. ; Passos-Bueno, M.R. ; KNIJNENBURG, J. ; Szuhai, K. ; Sloos, W. ; MAZZEU, J. F. ; Mazzeu, J.F. ; KOK, F. ; CHEROKI, C. ; Otto, P.A. ; Mingroni-Netto, R.C. ; Varela, M. ; Koiffmann, C. ; Kim, C.A. ; Bertola, D.R. ; Pearson, P.L. ; ROSENBERG, C. . Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenetic and Genome Research , v. 115, p. 254-261, 2006.
VARELA, Monica Castro ; KREPISCHI, Ana Cristina Victorino ; PAZ, José A da ; KNIJNENBURG, J ; SZUHAI, K ; ROSENBERG, C. ; KOIFFMANN, C. P. . A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenetic and Genome Research , Suíça, v. 114, p. 89-92, 2006.
Rosenberg, C . Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. Journal of Medical Genetics , v. 43, p. 180-186, 2005.
ROSENBERG, C. ; KNIJNENBURG, J ; Chauffaille Mde L ; BRUNONI, D. ; CATELANI, A. L. ; SLOOS, W ; SZUHAI, K ; TANKE, H J . Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.. Human Genetics , v. 116(5), p. 390-394, 2005.
JEHEE, F. ; ROSENBERG, C. ; KREPISCHI-SANTOS, A. C. V. ; KOK, F. ; KINIJNENBURG, J ; FROYEN, G. ; VIANNA-MORGANTE, A M ; OPITZ, J. M. ; BUENO, M R Passos . An Xq22.3 Duplication Detected by Comparative Genomic Hybridization Microarray (CGH-array) Defines a new Locus (FGS5) for FG Syndrome. American Journal of Medical Genetics , v. 139A, p. 221-226, 2005.
RAAP, A ; BURG, M Van Der ; KNIJNENBURG, J ; ROSENBERG, C. ; GRAY, J ; WIEGANT, J ; HODGSON, G ; TANKE, H J . Array Comparative Genomic Hybridization with Cyanin cis-platinum labeled DNA's. BioTechniques , 2004.
KINIJNENBURG, J ; SZUHAI, K ; GILTAY, J ; MOLENAAR, L ; SLOOS, W ; POOT, M ; TANKE, H J ; ROSENBERG, C. . Insights from genomic microarrays into structural chromosome rearrangements. American Journal of Medical Genetics , 2004.
SZUHAI, K ; KNIJNENBURG, J ; IJSZENGA, M ; TANKE, H J ; JONG, R J B de ; DEKKER, P B D ; ROSENBERG, C. ; HOGENDOORN, P C W . Multicolor fluorescence in situ hybridization analysis of a synovial sarcoma of the laJrynx with a t(X;18)(p11.2;q11.2) and trisomies 2 and 8.. Cancer Genetics and Cytogenetics , 2004.
BEZROOKOVE, V ; ZELDEREN-BHOLA, S L ; BRINK, A ; SZUHAI, K ; RAAP, A ; BARGE, R ; BEVERSTOCK, G C ; ROSENBERG, C. . A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene. Cancer Genetics and Cytogenetics , v. 149, p. 72-76, 2004.
BEVERSTOCK, G C ; BEZROOKOVE, V ; MOLLEVANGER, P ; KAMP, J J Van de ; PEARSON, P L ; KOUWENBERG, J M ; ROSENBERG, C. . Multiple supernumerary ring chromosomes of different origin in a patient: a clinical report and review of the literature.. American Journal of Medical Genetics , Estados Unidos, v. 122A, p. 168-173, 2003.
ROSENBERG, C. ; GEELEN, e ; IJSZENGA, M ; PEARSON, P L ; TANKE, H J ; DINJENS, W N ; DEKKEN, H Van . Spectrum of genetic changes in gastro-esophageal cancer cell lines determined by an integrated molecular cytogenetic approach. Cancer Genetics and Cytogenetics , v. 135, p. 35-41, 2002.
WIEGANT, J ; HALL, T Van ; BURG, M Van Der ; COLOMBO, M ; TANKE, H J ; OFFRINGA, F ; ROSENBERG, C. . Application of multicolor fluorescence in situ hybridization analysis for detection of cross-contamination and in vitro progression in commonly used murine tumor cell lines. Cancer Genetics and Cytogenetics , v. 139, p. 126-132, 2002.
DEKKEN, H Van ; ALERS, J C ; RIEGMAN, P H ; ROSENBERG, C. ; TILANUS, H W ; VISSERS, K . Molecular cytogenetic evaluation of gastric cardia adenocarcinoma and precursor lesions. The American Journal of Pathology , v. 158, p. 1961-1967, 2001.
ROSENBERG, C. ; WOUTERS, C H ; SZUHAI, K ; DORLAND, R ; PEARSON, P L ; POLL-THE, B T ; COLOMBIJN, R M ; BREUNING, M H ; LINDHOUT, D . A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X-inactivation and heterogeneity in the aetiology of the disease. European Journal of Human Genetics , v. 9, p. 171-177, 2001.
FODDE, R ; KUIPERS, J ; ROSENBERG, C. ; SMITS, R ; KIELMAN, M ; GASPAR, C ; ES, J H Van ; BREUKEL, C ; WIEGANT, J ; GILES, R H ; CLEVERS, H . Mutations in the APC tumour suppressor gene cause chromosomal instability. Nature Cell Biology , v. 3, p. 233-238, 2001.
WIEGANT, J ; BEZROOKOVE, V ; ROSENBERG, C. ; TANKE, J H ; RAAP, A ; ZHANG, H ; BITTNER, M ; TRENT, J M ; MELTZER, P S . Differentially painting human chromosome arms with combined binary ratio-labeling fluorescence In situ hybridization. Genome Research , v. 10, p. 861-865, 2000.
SZUHAI, K ; BEZROOKOVE, V ; WIEGANT, J ; VROLIJK, J ; DIRKS, R W ; ROSENBERG, C. ; RAAP, A K ; TANKE, H J . Simultaneous molecular karyotyping and mapping of viral DNA integration sites by 25-color COBRA-FISH. Genes, Chromosomes & Cancer , v. 28, p. 92-97, 2000.
ROSENBERG, C. ; GURP, R J Van ; GEELEN, e ; OOSTERHUIS, J W ; LOOIJENGA, L H . Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas. Oncogene (Basingstoke) , v. 19, p. 5858-5862, 2000.
ROSENBERG, C. . Comparative genomic and in situ hybridization of germ cell tumors of the infantile testis. Laboratory Investigation , v. 80, p. 1055-1064, 2000.
LOOIJENGA, L H ; ROSENBERG, C. ; GURP, R J Van ; GEELEN, e ; ECHTEN-ARENDS, J ; JONG, B de ; MOSTERT, M ; WOLTER, O J . Comparative genomic hybridization of microdissected samples from different stages in the development of a seminoma and a non-seminoma. Journal of Pathology , v. 191, p. 187-192, 2000.
HAVEN, C J ; WONG, F K ; DAM, e W Van ; JUIJT, R Van Der ; ASPEREN, C Van ; JANSEN, J ; ROSENBERG, C. ; WIT, M de ; ROIJERS, J ; HOPPENER, J ; LIPS, C J ; LARSSON, C ; TEH, B T ; MORREAU, H . A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. The Journal of Clinical Endocrinology and Metabolism , v. 85, p. 1449-1454, 2000.
BOVEE,, J. G. M. V ; ROYEN, M Van ; BARDOEL, A. F. J ; ROSENBERG, C. ; CORNELISSE, C J ; CLETON-JANSEN, Am ; HOGENDOORN, P C W . Near-haploidy and subsequent polyploidization characterize the progression of peripheral chondrosarcoma. The American Journal of Pathology , v. 157, n.5, p. 1587-1595, 2000.
BEZROOKOVE, V ; HANSSON, K ; SMAGT, J J Van Der ; HILHORST-HOFSTEE, Y ; WIEGANT, J ; BEVERSTOCK, G C ; RAAP, A K ; TANKE, H J ; BREUNING, M H ; ROSENBERG, C. . Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Human Genetics , v. 106, p. 392-398, 2000.
ALERS, J C ; ROCHAT, J ; KRIJTENBURG, P J ; HOP, W C ; KRANSE, R ; ROSENBERG, C. ; TANKE, H J ; SCHRODER, F H ; DEKKEN, H Van . Identification of genetic markers for prostatic cancer progression. Laboratory Investigation , v. 80, p. 931-942, 2000.
VOS, C B ; HAAR, N T Ter ; ROSENBERG, C. ; PETERSE, J L ; CLETON-JANSEN, Am ; CORNELISSE, C J ; VIJVER, M. J Van de . Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type. British Journal of Cancer , v. 81, p. 1410-1418, 1999.
DEKKEN, H Van ; TILANUS, H W ; TANKE, H J ; ROSENBERG, C. . Clonal Analysis of a Multifocal Oesophageal (Barrett's) adenocarcinoma by comparative genomic hybridization. Journal of Pathology , v. 188, p. 263-266, 1999.
DEKKEN, H Van ; GEELEN, e ; DINJENS, W. N. M ; WIJNHOVEN, B. P. L ; TILANUS, H W ; TANKE, H J ; ROSENBERG, C. . Comparative genomic hybridization of cancer of the gastroesophageal junction: Deletion of 14Q31-32.1 discriminates between esophageal (Barrett's) and gastric cardia adenocarcinomas. Cancer Research , v. 59, p. 748-752, 1999.
SCHERES, J ; PATER, J M de ; SOUTENBEEK, Ph ; WIJMENGA, C ; ROSENBERG, C. ; PEARSON, P L . Isochromosome 1q as the sole chromosomal abnormality in two fetal teratomas. Possible trisomic or tetrasomic zygote rescue in fetal teratoma with an additional isochromosome 1q. Cancer Genetics and Cytogenetics , v. 115, n.1, p. 1-10, 1999.
ROSENBERG, C. ; SCHUT, T B ; MOSTERT, M ; TANKE, H J ; RAAP, A K ; OOSTERHUIS, J W ; LOOIJENGA, L . Chromosomal gains and losses in testicular germ cell tumors of adolescents and adults investigated by a modified comparative genomic hybridization approach. Laboratory Investigation , v. 79, p. 1447-1451, 1999.
BOVEE,, J. G. M. V ; CLETON-JANSEN, Am ; ROSENBERG, C. ; TAMINIAU, A H ; CORNELISSE, C ; HOGENDOORN, P C . Molecular genetic characterization of both components of a dedifferentiated chondrosarcoma, with implications for its histogenesis. Journal of Pathology , v. 189, p. 454-462, 1999.
ALERS, J C ; ROCHAT, J ; KRIJTENBURG, P J ; DEKKEN, Herman Van ; RAAP, A K ; ROSENBERG, C. . Universal linkage system: an improved method for labeling archival DNA for comparative genomic hybridization. Genes, Chromosomes & Cancer , v. 21, p. 301-305, 1999.
ROSENBERG, C. ; GIJLSWIJK, R P M Van ; VOS, C B J ; WIEGANT, J ; CORNELISSE, C ; TANKE, H J ; RAAP, A K . Comparative Genomic Hybridization with Lissamine- and Fluorescein Labelled Nucleotides. Cytometry , v. 32, p. 347-351, 1998.
ROSENBERG, C. ; MOSTERT, M ; BAKKER-SCHUT, T ; POL, M Van de ; ECHTEN, J Van ; JONG, B de ; RAAP, A K ; TANKE, J H ; OOSTERHUIS, W ; LOOIJENGA, L . Chromosomal contitution of human spermatocytic seminomas; comparative genomic hybridization supported by conventional and interphase cytogenetics.. Genes, Chromosomes & Cancer , v. 23, p. 286-291, 1998.
ROSENBERG, C. ; NAVAJAS, L ; VAGENAS, D F ; BAKKER, e ; VAINZOF, M ; BUENO, M R Passos ; TAKATA, R I ; OMMEN, G J Van ; ZATZ, M ; DUNNEN, J T Den . Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization. Neuromuscular Disorders , v. 8, p. 447-452, 1998.
MOSTERT, M ; VERKERK, A. J. M. H ; POL, M Van de ; HEIGHWAY, J ; MARYNEN, P ; ROSENBERG, C. ; KESSEL, A G Van ; ECHTEN, J Van ; OOSTERHUIS, W ; LOOIJENGA, L . Identification of the crucial region of 12p overrepresentation in testicular germ cell tumors of adolescents and adults: towards the gene(s) of interest. Oncogene (Basingstoke) , v. 16, p. 2617-2627, 1998.
MIOZZO, M ; CASTORINA, P ; RIVA, P ; DALPRA, L ; CONTI, A M F ; VOLPI, L ; HOE, T ; KHOO, A ; WIEGANT, J ; ROSENBERG, C. ; LARIZZA, L . Chromosomal instability in fibrobasts and mesenchimal tumors from 2 sibs with Rothmund-Thomson Syndrome. International Journal of Cancer , v. 77, p. 504-510, 1998.
DEKKEN, H Van ; ROSENBERG, C. ; KRIJTENBURG, P J ; ALERS, J C . Interphase cytogenetics and comparative genomic hybridization of human epithelial cancer and precursor lesions. Histochemistry and Cell Biology , v. 108, p. 419-430, 1997.
DIERLAMM, J ; ROSENBERG, C. ; STUL, M ; PITTALUGA, S ; WLODARSKA, L ; MICHAUX, L ; DEHAEN, M ; VERHOEF, G ; THOMAS, J ; BAKKER-SCHUT, T ; CASSIMAN, J J ; RAAP, A K ; WOLF-PEETERS, C de ; BERGHE, H Van Den ; HAGEMEIJER, A . Characteristic pattern of chromosomal gains and losses in mariginal zone B-cell lymphoma detected by comparative genomic hybridization. Leukemia , v. 11, p. 747-758, 1997.
ROSENBERG, C. ; BAKKER-SCHUT, T ; MOSTERT, M ; TANKE, H J ; RAAP, A K ; OOSTERHUIS, W ; LOOIJENGA, L . Comparative genomic hybridization in hypotriploid/hyperdiploid tumors. Cytometry , v. 29, p. 113-121, 1997.
ROSENBERG, C. ; ANTONINI, S ; BARBOSA, A C ; MOREIRA-FILHO, C A ; MORGANTE, A M Vianna . RB1 deletion in gonadoblastoma in an XY fem. Human Genetics , v. 101, p. 181-185, 1997.
ALERS, J C ; KRIJTENBURG, P J ; ROSENBERG, C. ; HOP, W C J ; VERKERK, A M ; SCHRODER, F H ; KWAST, T H Van Der ; BOSMAN, F T ; DEKKEN, H Van . Interphase cytogenetics of prostatic tumor progression: specific chromosomal abnormalities are involved in metastasis of the bone. Laboratory Investigation , v. 5, p. 437-448, 1997.
ROSENBERG, C. ; MORGANTE, A M Vianna ; MINGRONI NETTO, R C ; OTTO, P A . FRAXF in a patient with chromosome 8 duplication. Journal of Medical Genetics , v. 33, p. 611-614, 1996.
ROSENBERG, C. ; VOLTZ, A K ; LAWER, A M ; LAMB, B T ; STETTEN, G ; GEARHART, J D . Alterations of yeast artificial chromosome transgenic sequences in stretched embryonic stem-cell chromatin visualized by flouroescence in situ hybridization.. Cytogenetics and Cell Genetics , v. 75, n.67, 1996.
WES, P D ; CHEVESICH, J ; JEROMIN, A ; ROSENBERG, C. ; STETTEN, G ; MONTELL, C . TRPC1, a human homolog of a Drosophila store-operated channel. PNAS. Proceedings of the National Academy of Sciences of the United States of America , v. 92, p. 9652-9656, 1995.
ROSENBERG, C. ; ROSA, V A Della ; LATRONICO, A C ; MENDONCA, B B ; VIANNA-MORGANTE, A M . Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics. Cancer Genetics and Cytogenetics , v. 79, p. 36-40, 1995.
ROSENBERG, C. ; FLORIJN, R J ; RIJKE, F M Van de ; BLONDEN, L A ; RAAP, A K ; OMMEN, G J Van ; DUNNEN, J T Den . High resolution DNA fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication.. Nature Genetics , v. 10, p. 477-479, 1995.
ROSENBERG, C. ; BOROVIK, C L ; CANONACO, R S ; SICHERO, L C ; QUEIROZ, A P ; MORGANTE, A M Vianna . Identification of a supernumerary marker derived from chromosome 17 using FISH. American Journal of Medical Genetics , v. 59, p. 33-35, 1995.
ROSENBERG, C. ; JANSON, M ; NORDESKJOLD, M ; BORRESEN, A L ; MORGANTE, A M Vianna . Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH. Cytogenetics and Cell Genetics , v. 65, p. 268-271, 1994.
ROSENBERG, C. ; ANDERSEN, T I ; NESLAND, J M ; LIER, M e ; BROGGER, A ; BORRESEN, A L . Genetic alterations of chromosome 17 in human breast carcinoma studied by fluorescence in situ hybridization and molecular DNA techniques. Cancer Genetics and Cytogenetics , v. 75, p. 1-5, 1994.
FECHNER, P Y ; ROSENBERG, C. ; STETTEN, G ; CARGILE, C B ; PEARSON, P L ; SMITH, K ; MIGEON, C J ; BERKOVITZ, B G . Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism. Cytogenetics and Cell Genetics , v. 66, p. 22-26, 1994.
MCGINNISS, M J ; ROSENBERG, C. ; STETTEN, G ; SCHINZEL, A A ; BINKERT, F ; PETERSEN, M B ; KEARNS, W B ; KAZAZIAN, W G ; PEARSON, P L ; ANTONARAKIS, S e . Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics , v. 46, p. 647-651, 1993.
GARTNER, J ; KEARNS, W B ; ROSENBERG, C. ; PEARSON, P L ; COPELAND, N G ; GILBERT, D J ; JENKINS, N A ; VALLE, D . Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics (San Diego) , v. 15, p. 412-414, 1993.
BLAKEMORE, K J ; ROSENBERG, C. ; JASWANEY, V L ; PRESSMANA, e K ; KEARNS, W B ; PEARSON, P L ; STETTEN, G . Rapid diagnosis of trisomy 18 and dizygosity in twins using fluorescen in situ hybridization on uncultured amniocytes. Journal of Maternal-Fetal Medicine , v. 2, p. 197-200, 1993.
ROSENBERG, C. ; BLAKEMORE, K J ; KEARNS, W B ; GIRALDEZ, R A ; ESCALLON, C S ; PEARSON, P L ; STETTEN, G . Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique. American Journal of Human Genetics , v. 50, p. 700-705, 1992.
ROSENBERG, C. ; MORGANTE, A M Vianna ; OTTO, P A ; NAVAJAS, L . Effect of X inactivation on fragile X frequency and mental retardation. American Journal of Medical Genetics , v. 38, p. 421-424, 1991.
ROSENBERG, C. ; STETTEN, G ; KEARNS, W B ; PEARSON, P L ; LITTLEFIELD, J W . Origin of chromosome rearrangements in two long-lived human keratinocyte lines.. In Vitro Cellular & Developmental Biology. Animal , v. 27a, p. 823-825, 1991.
MINGRONI-NETTO, R C ; ROSENBERG, C. ; MORGANTE, A M Vianna ; PAVANELLO, R . Fragile X frequency in a mentally retarded population in Brazil. American Journal of Medical Genetics , v. 35, p. 22-27, 1990.
JACOBI, C M ; ROSENBERG, C. ; MORGANTE, A M Vianna . The karyotype of the Brown Mussel Perna perna (L.) (Bivalvia: Mytilidae). Revista Brasileira de Genetica (Suplemento), v. 13, n.669, 1990.
SOARES, V X R ; ROSENBERG, C. ; MORGANTE, A M Vianna ; NAVAJAS, L . Normal Carrier males of the Martin-Bell syndrome gene: implications for genetic counseling. Revista Brasileira de Genetica (Suplemento), v. 11, p. 769-781, 1988.
MORGANTE, A M Vianna ; RICHIERI-COSTA, A ; ROSENBERG, C. . Deletion of the short arm of chromosome 20. Clinical Genetics , v. 31, p. 416-409, 1987.
ROSENBERG, C. ; FROTA-PESSOA, O ; MORGANTE, A M Vianna ; CHU, T H . Phenotypic spectrum of 45,X/46,XY individuals. American Journal of Medical Genetics , v. 27, p. 553-559, 1987.
NAVAJAS, L ; ROSENBERG, C. ; MORGANTE, A M Vianna . Genetic Couseling in Martin -Bell syndrome. Revista Brasileira de Genetica (Suplemento), v. 10, p. 333-340, 1987.
MORGANTE, A M Vianna ; ROSENBERG, C. . Deletion of the centromere as a mechanism for achieving stability of a dicentric chromosome. Cytogenetics and Cell Genetics , v. 42, p. 119-122, 1986.
ROSENBERG, C. ; MUSTACCHI, C ; BRAZ, A ; ARNHOLD, I J ; CHU, T H ; CARNEVALE, J ; FROTA-PESSOA, O . Testicular regression in a patient with virilized female phenotype. American Journal of Medical Genetics , v. 19, p. 183-188, 1984.
TOLEZANO, G. C. ; CARVALHO, L. M. L. ; KREPISCHI, Ana Cristina Victorino ; Rosenberg C . Inteligência e deficiência intelectual: bases genéticas e fatores ambientais. Genética na Escola, Ribeirão Preto, p. 18 - 25.
Abu HANA, P. A. S. ; SAKATA, H. ; OLIVEIRA, C. ; BONADIO, R. ; FERRARI, I. ; SAFATLE, H. ; CORDOBA, M. ; ROSA, M. ; Rosenberg C ; POGUE, R. ; Freitas, Érika L. ; ACEVEDO-POPPE, A. ; PIC-TAYLO, A. ; OLIVEIRA, S. ; Mazzeu, JF . PgmNr 2969: Cytogenomic findings in Brazilian patients with OAVS.. In: Congresso American Society of Human Genetics, 2018, San Diego. Abstracts ASHG, 2018.
CARVALHO, LAURA MACHADO LARA ; BRANCO, ELISA VARELLA ; MOREIRA, DANIELLE P. ; KOBAYASHI, GERSON S. ; SARAFIAN, R. D. ; ARAUJO, F. T. ; HSIA, G. S. P. ; BERTOLLO, E. M. G. ; BUCK, C. B. ; PEREIRA, LYGIA V. ; KOIFFMANN, CELIA P. ; PASSOS-BUENO, MARIA RITA S. ; MENDES, T. A. O. ; Krepischi, Ana Cristina Victorino ; Rosenberg C . DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR THE XIA-GIBBS SYNDROME. In: 67th Brazilian Congress of Genetics, 2022, Natal. Abstracts - 67th Brazilian Congress of Genetics. Ribeirão Preto: Sociedade Brasileira de Genética, 2022.
TOLEZANO, G. C. ; BASTOS, G. C. ; SOUZA DA COSTA, SILVIA ; SCLIAR, M. O. ; SOUZA, C. F. M. ; LINDEN JR, H. V. D. ; FERNANDES, W. L. M. ; OTTO, P. A. ; Vianna-Morgante, Angela Maria ; Rosenberg C. ; JORGE, ALEXANDER AUGUSTO DE LIMA ; Bertola, Debora Romeo ; Krepischi, Ana C. . UNRAVELING GENETIC FACTORS UNDERLYING MICROCEPHALY: A BRAZILIAN COHORT OF 48 CHILDREN INVESTIGATED BY WHOLE-EXOME SEQUENCING. In: 67th Brazilian Congress of Genetics, 2022, Natal. Abstracts - 67th Brazilian Congress of Genetics. Ribeirão Preto: Sociedade Brasileira de Genética, 2022.
CARVALHO, LAURA M.L. ; D?ANGELO, CARLA S. ; VILLELA, D. C. ; Costa, SS ; BERTOLA, DEBORA R ; SILVA, I. T. ; Krepischi, A.C.V. ; Koiffmann, CP ; Rosenberg, C . Investigation of genetic variants in a Brazilian cohort of syndromic obesity. In: 66th Brazilian Congress of Genetics, 2021, On-line. Abstracts - 66th Brazilian Congress of Genetics. Ribeirão Preto: Sociedade Brasileira de Genética.
TOLEZANO, GIOVANNA CANTINI ; BASTOS, G. C. ; COSTA, S. S. ; PASSOS-BUENO, MARIA RITA S. ; KOIFFMANN, CELIA P. ; Vianna-Morgante, A. M ; JORGE, A. A. L. ; BERTOLA, D. R. ; Rosenberg, C. ; Krepischi, ACV . Investigating rare copy number variants in a Brazilian casuistry of 184 microcephalic patients. In: 66th Brazilian Congress of Genetics, 2021, On-line. Abstracts - 66th Brazilian Congress of Genetics. Ribeirão Preto: Sociedade Brasileira de Genética, 2021.
VIANNA, E. ; GONCALVES, A. P. ; PIERGIORGE, R. M. ; SANTOS, J. M. ; CALASSARA, V. ; Rosenberg C. ; Krepischi, A.C.V. ; BOY, R. ; RIBEIRO, M. G. ; SANTOS, S. R. ; MACHADO, F. B. ; MEDINA-ACOSTA, E. ; PIMENTEL, M. M. G. ; SANTOS-REBOUCAS, C. B. . Identification of X-linked causes of intellectual disability in females though X-chromosome inativation skewing. In: 65o. Congresso Brasileiro de Genética, 2019, Águas de Lindoia. 65o. Congresso Brasileiro de Genética - Abstracts. Ribeirão Preto: Sociedade Brasileira de Genética, 2019.
Rosenberg C. ; Krepischi, A.C.V. ; GALINDO, L. ; NAKANO, V. ; HRISTOV, A. ; MONFREDINI, P. ; SOUSA, A. ; SILVA, J. ; MILANEZI, F. . Is Chromosome Microarray Analysis of parents an effective tool for interpreting variants of unknown significance (VUS) in their offspring?. In: XXXI Congresso Brasileiro de Genética Médica, 2019, Salvador. XXXI Congresso Brasileiro de Genética Médica - Abstracts, 2019.
CARVALHO, L. M. L. ; COSTA, S. S. ; GOLONI-BERTOLLO, E. M. ; GALBIATTI-DIAS, A. L. S. ; PAVARINO, E. C. ; KREPISCHI, A. C. V. ; KOIFFMANN, C. P. ; Rosenberg C. . The Xia-Gibbs syndrome cused by a novel variant in the AHDC1 gene. In: 65o. Congresso Brasileiro de Genética, 2019, Águas de Lindoia. 65o. Congresso Brasileiro de Genética - Abstracts. Ribeirão Preto: Sociedade Brasileira de Genética, 2019.
PIRES, S. F. ; COSTA, S. S. ; VIDAL, D. O. ; LENGERT, A. H. ; BOLDRINI, E. ; SILVA, S. R. M. ; LOPES, L. F. ; Rosenberg C. ; MASCHIETTO, M. ; Krepischi, A.C.V. . Analysis of somatic mutations in osteosarcomas. In: 65o. Congresso Brasileiro de Genética, 2019, Águas de Lindoia. 65o. Congresso Brasileiro de Genética - Abstracts. Ribeirão Preto: Sociedade Brasileira de Genética, 2019.
CANTON, A. ; BRITO, V. ; MONTENEGRO, L. ; Krepischi, A.C.V. ; Rosenberg C. ; COSTA, S. S. ; RAMOS, C. ; CUNHA, M. ; SERAPHIM, C. ; FARIA, A. ; FUNARI, M. ; JORGE, A. ; ZEGHER, F. ; MENDONCA, B. ; LATRONICO, A. C. . Comprehensive Genetic Investigation of Patients with Central Precocious Puberty Associated with Complex Phenotypes. In: 101st Annual Meeting of the Endocrine Society, 2019, New Orleans. Journal of the Endocrine Society (Abstracts), 2019. v. 3. p. OR17-2.
TOLEZANO, G. C. ; SCLIAR, M. O. ; COSTA, S. S. ; FERNANDES, W. L. M. ; OTTO, P A ; Bertola, D.R. ; Rosenberg C. ; Vianna-Morgante, A. M ; Krepischi, A.C.V. . Investigating genetic factors contributing to penetrance and expressivity in carriers of class I 17p13.3 microduplications. In: 65o. Congresso Brasileio de Genética, 2019, Águas de Lindoia. 65o. Congresso Brasileio de Genética - Abstracts. Ribeirão Preto: Sociedade Brasileira de Genética, 2019.
BARROS, J. S. ; AGUIAR, T. ; COSTA, S. S. ; BARBOSA, A. C. ; RIVAS, M. P. ; NOVAK, E. ; ODONE FILHO, VICENTE ; TOLEDO, S. R. C. ; CYPRIANO, M. ; CARRARO, D. M. ; CUNHA, I. W. ; COSTA, C. M. L. ; Rosenberg, C ; Krepischi, A.C.V. . Insights into a rare embryonal liver cancer open novel avenues of study: Not all hepatoblastomas. In: 65o. Congresso Brasileiro de Genética, 2019, Águas de Lindoia. 65o. Congresso Brasileiro de Genética - Abstracts. Ribeirão Preto: Sociedade Brasileira de Genética, 2019.
VILLELA, DARINE ; SOBRAL, J. ; COSTA, S. S. ; KREPISCHI, Ana Cristina Victorino ; Rosenberg C. . Detection of mosaicism involving structural and numerical chromosome aberrations from tumor DNA sequencing. In: EACR-ESMO Joint Conference on Liquid Biopsies, 2019, Bergamo. EACR-ESMO Joint Conference on Liquid Biopsies, 2019.
FOCK, R. A. ; MIGLIAVACCA, M. ; PERRONE, E. ; GALINDO, L. T. ; GUARISCHI-SOUSA, R. ; SCARPELLI, L. ; HRISTOV, A. D. ; MILANEZI, M. F. ; CAMPANA, G. ; Rosenberg, C. . Resolutividade diagnóstica da análise cromossômica por microarray para pacientes com suspeita clínica de TEA: experiência de um laboratório brasileiro. In: XXXI Congresso Brasileiro de Genética Médica, 2019, Salvador. XXXI Congresso Brasileiro de Genética Médica, 2019.
VILLELA, D. C. ; COSTA, S. S. ; Vianna-Morgante, A. M. ; Krepischi, Ana C V ; Rosenberg, C. . Detection of mosaicism involving structural and chromosome aberrations from targeted sequencing data. In: 52nd European Human Genetics Conference (ESHG), 2018, Milão. 52nd European Human Genetics Conference (ESHG), 2018.
baraterla, WAR ; hijazi, H. ; CARVALHO, CLÁUDIA M. B. ; Yamamoto, G ; COSTA, SILVIA SOUZA ; Rosenberg Carla ; Kim, C A ; BERTOLA, D. R. ; LUPSKI, JAMES R. . Small 17p13.3 duplication including BHLHA9 in a Brazilian family with incomplete penetrance of split-hand/foot malformation.. In: Congresso American Society of Human Genetics, 2017, Orlando. Abstracts American Society of Human Genetics 2017, 2017. p. PgmNr 2446.
Pearson, Peter L ; SANTOS, A. ; Campagnari, F. ; Krepischi, Ana C.V. ; Vianna-Morgante, Angela M ; Camara, M ; Brasil, R ; VIEIRA, L. ; Rosenberg C . Recurrent telomere captures as the mechanism producing uniquely complex 1p UPD mosaicism.. In: Congresso American Society of Human Genetics, 2017, Orlando. Abstracts American Society Human Genetics 2017, 2017. p. PgmNr 2501.
Villela, D ; EZQUINA, S. ; Pearson, Peter L ; ROSENBERG, C. . Next Generation Sequencing for evaluating variable number of X-chromosomes in NIPT. In: Advances in Prenatal Molecular Diagnostics ? November 29 ? December 1, 2016, Boston, MA ?USA, 2016, Boston. Abstract Book of Advances in the Prenatal Molecular Diagnostics Congress.
KREPISCHI, A. C. V. ; DE ARAÚJO, ÉRICA S. S. ; RAMALHO, R. F. ; ACHATZ, M. I. ; MOREDO, L. F. ; DUPRAT, JOÃO PEREIRA ; Rosenberg C ; Carraro, Dirce M . DNA methylation landscape of sporadic and melanoma-prone patients. In: 65th Annual Meeting of the American Society of Human Genetics, 2015, Baltimore. Abstracts 65th Annual Meeting of the American Society of Human Genetics, 2015.
Oliveira, SF ; SANTOS, P. C. ; OLIVEIRA, C. P. ; OLIVEIRA, A. B. ; SAFATLE, HELOISA PIRES NETO ; CORDOBA, MARA S. ; ROSA, M. T. S. ; Rosenberg C ; FREITAS, ÉRIKA ; RIBEIRO, E. ; POGUE, R. ; PEREIRA, R. ; FERRARI, IRIS ; MESTRINHO, H. ; PIC-TAYLOR, A. ; Mazzeu, J F . High incidence of CNVs in patients with oculo-auriculo-vertebral spectrum disorders. In: 65th Annual Meeting of the American Society of Human Genetics, 2015, Baltimore. Abstracts 65th Annual Meeting of the American Society of Human Genetics, 2015.
Mingroni-Netto, R.C. ; FREITAS, ÉRIKA LOPES ; UEHARA, DANIELA T. ; AURICCHIO, MARIA TERESA B. M. ; OITICICA, JEANNE ; SILVA, A. G. ; Rosenberg C ; Krepischi, A. C. . Genomic copy number alterations in non-syndromic hearing loss. In: 65th Annual Meeting of the American Society of Human Genetics, 2015, Baltimore. Abstracts 65th Annual Meeting of the American Society of Human Genetics, 2015.
BESSA, D. S. ; MACEDO, D. B. ; ABREU, A. P. ; DAUBER, A. ; SILVEIRA, L. G. ; ZEGHER, F. ; GAGLIARDI, P. C. ; DEMIR, K. ; LONGHI, C. A. ; Rosenberg C ; KREPISCHI, A. C. V. ; MENDONCA, B. B. ; BRITO, V. N. ; ANTONINI, S. R. ; KAISER, U. B. ; LATRONICO, A C . Idiopathic Central Precocious Puberty in Boys: Clinical, Hormonal and Genetic Findings. In: The Endocrine Society 97Th Annual Meeting, 2015, San Diego. Abstracts The Endocrine Society 97Th Annual Meeting, 2015.
Vianna-Morgante, Angela M ; OLIVEIRA-SANTOS, J. ; COSTA, S. S. ; BONALDI, A. ; Krepischi, A. C. ; Rosenberg, Carla . X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivations. In: Gencodys Integrative Networks in Intellectual Disabilities, 2013, Cyprus. 1st Gencondys, 2013.
Freitas, Érika L. ; Uehara, DT ; DANTAS, V. G. L. ; GONCALVES, A. ; Krepischi, A. C. ; Mingroni-Netto, R.C. ; Rosenberg C . Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci. In: 62st Annual Meeting of The American Society of Human Genetics, 2012, San Francisco. 62st Annual Meeting of The American Society of Human Genetics, 2012. v. 62st.
SANTOS, P. ; FREITAS, E. ; SAFATLE, H. P. N. ; Rosenberg C ; FERRARI, I. ; OLIVEIRA, S. F. ; Mazzeu, JF . Array-CGH analysis in patients with Goldenhar Syndrome. In: 62st Annual Meeting of The American Society of Human Genetics, 2012, San Francisco. 62st Annual Meeting of The American Society of Human Genetics, 2012. v. 62st.
VILLELA, D. C. ; Schlesinger, D ; Suemoto, CK ; Grinberg, LT ; Krepischi, A. C. ; Rosenberg C . Association of rare copy number variations and risk for Alzheimer?s disease. In: 62st Annual Meeting of The American Society of Human Genetics, 2012, San Francisco. 62st Annual Meeting of The American Society of Human Genetics, 2012. v. 52sr.
Rodrigues, Tatiane ; CARVALHO, F. F. ; Krepischi, A. C. ; VERJOVSKI-ALMEIDA, S. ; Rosenberg C . Identification of CNA signatures in prostate cancer: Narrowing chromosome regions related with occurrence, prognosis and recurrence after treatment.. In: AACR Annual Meeting, 2012, Chicago. Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research, 2012. v. 103rd.
Rodrigues, Tatiane ; Krepischi, A. C. ; COSTA, C. M. L. ; Carraro, Dirce M ; Rosenberg C . Patterns of genomic imbalances in hepatoblastomas.. In: EBI - Wellcome Trust Summer School in Bioinformatics, 2012, Hinxton. EBI - Wellcome Trust Summer School in Bioinformatics 2012, 2012. v. 2012.
Rodrigues, Tatiane ; Krepischi, A. C. ; MASCHIETTO, M. ; COSTA, C. M. L. ; Carraro, Dirce M ; Rosenberg C . Paterns of genomic imbalances in liver embrionary tumors.. In: Latin American School of Human and Medical Genetics, 2012, Caxias do Sul. Latin American School of Human and Medical Genetics, 2012. v. 8th.
Rodrigues, Tatiane ; Krepischi, A. C. ; COSTA, C. M. L. ; Carraro, Dirce M ; Rosenberg C . Genetic and Epigenetic Alterations in the Embrionary Tumor Hepatoblastoma.. In: 22nd Biennal Congress of the European Association for Cancer Research, 2012, Barcelona. 22nd Biennal Congress of the European Association for Cancer Research, 2012. v. 2012.
CANTON, A. ; Rodrigues, Tatiane ; Krepischi, A. C. ; ARNHOLD, I. J. P ; MENDONCA, B. B. ; Rosenberg C ; JORGE, A. A. . High frequency of submicroscopic chromosomal deletions and duplications in dysmorphic patients born small for gestational age. In: 51st Meeting of the European Society for Paediatric Endocrinology, 2012, Leipzig. 51st Meeting of the European Society for Paediatric Endocrinology, 2012. v. 51sr.
Rodrigues, Tatiane ; Krepischi, A. C. ; COSTA, C. M. L. ; Carraro, Dirce M ; Rosenberg C . Global profiling of DNA methylation in Hepatoblastoma. In: IV Encontro Nacional de Epigenética, 2012, São Paulo. IV Encontro Nacional de Epigenética, 2012. v. IV.
Rodrigues, Tatiane ; Krepischi, A. C. ; COSTA, C. M. L. ; Carraro, Dirce M ; Rosenberg C . Mining genomic imbalances in Hepatoblastoma. In: X-meeting, 2012, Campinas. 8th International Conference of the Brazilian Association for Bioinformarmatics and Computacional Biology - X-meeting, 2012. v. 8th.
VIDAL, D. O. ; SILVA, A. G. S. ; MASCHIETTO, M. ; VIEIRA, H. ; LOPES, L. F. ; Brentani, Helena ; Rosenberg C ; KREPISCHI-SANTOS, A. C. V. . Microarray-based DNA methylation analysis in pediatric myelodysplastic syndrome and juvenile myelomonocytic leukemia. In: VI International Symposium on Myelodysplastic Syndromes and bone Marrow failures in childhood., 2012, Prague. VI International Symposium on Myelodysplastic Syndromes and bone Marrow failures in childhood., 2012. v. VI.
Goncalves, Amanda ; MASCHIETTO, M. ; VIDAL, D. O. ; PELICARIO, L. M. ; VELOSO, E. D. R. P. ; LOPES, L. F. ; KREPISCHI, Ana Cristina Victorino ; Rosenberg C . Array-CGH as an adjuvant tool in cytogenetic diagnosis of mieloid neoplasms. In: VI International Symposium on Myelodysplastic Syndromes and bone Marrow failures in childhood., 2012, Prague. VI International Symposium on Myelodysplastic Syndromes and bone Marrow failures in childhood., 2012. v. VI.
FREITAS, E. ; Uehara, DT ; DANTAS, V. G. L. ; Goncalves, Amanda ; Krepischi, A. C. ; Mingroni-Netto, R.C. ; Rosenberg, Carla . Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing. In: 62nd Annual Meetin of the American Society of Human Genetics, 2012. 62ng Annual Meeting ASHG, 2012.
FREITAS, E. ; Uehara, DT ; MINGRONI NETTO, R C ; Krepischi, A.C.V. ; Rosenberg, C . Whole-genome array-CGH screening in autosomal dominant sensorineural hearing loss patients detects two chromosomal alterations at 5q32 and 7q31.1. In: The European Society of Human Genetics Conference, 2011, Amsterdan. The European Society of Human Genetics Conference 2011, 2011.
FREITAS, E. ; OTTO, P A ; Rosenberg, C . Submicroscopic genomic alterations investigated by array-CGH in Finnish and Brazilian patients with Müllerian Alterations (MA). In: 12th International Congress of Human Genetics/ 61st ASHG Annual Meeting, 2011, Montreal. 12th International Congress of Human Genetics/ 61st ASHG Annual Meeting, 2011.
Morris, MLM ; Medina, CN ; FREITAS, E. ; Rosenberg, C ; Oliveira, SF ; Ferrari, I ; Mazzeu, J F . 21,5Mb Mosaic Pure Inverted Duplication of Chromosome 1q42.13qter. In: 12th International Congress of Human Genetics/ 61st ASHG Annual Meeting, 2011, Montreal. 12th International Congress of Human Genetics/ 61st ASHG Annual Meeting, 2011.
MINGRONI NETTO, R C ; Uehara, DT ; FREITAS, E. ; Mazzeu, J F ; Auricchio, MTM ; Tabith Jr, A ; Rosenberg, C . A Duplication in a Patient with Nonsyndromic Deafness Reveals a Novel Candidate Gene for Deafness, DOCK4. In: 8th Molecular Biology of Hearing and Deafness Conference, 2011, Hixton - Cambridge. 8th Molecular Biology of Hearing and Deafness Conference, 2011.
RODRIGUES, T. C. ; Krepischi, A.C.V. ; Bertola, D R ; Kok, F ; Rosenberg, C . The logistcs and result of array CGH diagnosis in mental retardation and congenital abnormalities in Brazil. In: 7th International DECIPHER Symposium - Wellcome Trust Sanger Centre, 2011, Hixton, Cambridge. 7th International DECIPHER Symposium - Wellcome Trust Sanger Centre, 2011.
Rodrigues, Tatiane ; Krepischi, A. C. ; Bertola, D R ; Kok, F ; Rosenberg C . Array-CGH in mental retardation and congenital abnormallities. In: 2ª Reunião Brasileira de Citogenética, 2011, Águas de Lindóia. 2ª Reunião Brasileira de Citogenética, 2011.
LINHARES, N. ; SVARTMAN, M. ; Rodrigues, Tatiane ; Rosenberg C ; VALADARES, E. . Subtelomeric 6p25 Deletion Syndrome: complex rearrangement involving the FOXC1, FOXF2 and NRN1 genes. In: Encontro Internacional de Anomalias Craniofaciais: Fenótipo Clínico, Genes Relacionados e Novas Perspectivas, 2011, Bauru. Encontro Internacional de Anomalias Craniofaciais: Fenótipo Clínico, Genes Relacionados e Novas Perspectivas, 2012.
Rodrigues, Tatiane ; CARVALHO, F. F. ; CAMPOS, A. H. J. F. M. ; Krepischi, A. C. ; VERJOVSKI-ALMEIDA, S. ; Rosenberg C . Narrowing the chromosome driver regions in prostate cancer by array-CGH. In: 57 Congresso Brasileiro de Genética, 2011, Águas de Lindóia. 57 Congresso Brasileiro de Genética, 2011. v. 57.
Rodrigues, Tatiane ; Krepischi, A. C. ; Bertola, D R ; Kok, F ; Rosenberg C . The logistcs and result of array CGH diagnosis in mental retardation and congenital abnormalities in Brazil. In: 7th International DECIPHER Symposium, 2011, Hinxton. 7th International DECIPHER Symposium, 2011.
RIBEIRO-BICUDO, L. A. ; ZECHI-CEID, R. M. ; GUION-ALMEIDA, M. ; RICHIERI-COSTA, A. ; Rodrigues, Tatiane ; Krepischi, A. C. ; Rosenberg C . Alobar holoprosencephaly in two sibs: deletion of chromosome 17. In: European Human Genetics Conference, 2011. European Human Genetics Conference, 2011.
CANTON, A. ; Rodrigues, Tatiane ; Krepischi, A. C. ; CORREA, F. ; ARNHOLD, I. J. P ; MENDONCA, B. B. ; Rosenberg C ; JORGE, A. A. . Alta freqüência de deleções e duplicações cromossômicas submicroscópicas em pacientes dismórficos nascidos pequenos para a idade gestacional (PIG). In: COPEM, 2011, São Paulo. COPEM 2011, 2011.
CAPELI, L. P. ; HECK, B. ; CAMARGO, B. ; Rosenberg, C . Chromosomal alterations evaluated by aCGH in patients presenting pediatric cancer and congenital dysmorphisms. In: European Human Genetics Conference, 2010, Gothenburg, Sweden. EHGC 2010, 2010. p. 196-196.
FREITAS, E. ; Krepischi, A.C.V. ; Otto, P.A. ; Rosenberg, C . High-resolution 44k array and 1Mb array detect similar rates of chromosomal imbalances in patients with müllerian defects (MD). In: European Human Genetics Conference, 2010, Gothenburg, Sweden. EHGC 2010, 2010. p. 122-122.
Passos-Bueno, M R ; COSTA, C. ; MONTENEGRO, E. ; MOREIRA, ELOISA S. ; Costa, Silvia S ; LOURENÇO, NAILA ; Rosenberg C ; Krepischi, A. C. ; SILVA, I. . PgmNr 2421: Cadherins matter to autism spectrum disorders: Which ones?. 2018. (Apresentação de Trabalho/Congresso).
VIANNA, E. Q. ; GONCALVES, A. P. ; GONCALVES, M. R. ; KREPISCHI, A. C. V. ; Rosenberg C ; SANTOS ; PIMENTEL, M. M. G. ; SANTOSREBOUCAS, C. B. . P-048 - RELATO DE CASO DE SÍNDROME DE DELEÇÃO 22Q11.2 NÃO CLÁSSICA E SUAS IMPLICAÇÕES MOLECULARES E DIAGNÓSTICAS. 2018. (Apresentação de Trabalho/Congresso).
Rosenberg C . Os desafios do diagnóstico de doenças Humanas no brasil. 2018. (Apresentação de Trabalho/Conferência ou palestra).
Rosenberg C . Array-CGH como ferramenta adicional no diagnóstico citogenético de deficiência intelectual. 2015. (Apresentação de Trabalho/Conferência ou palestra).
Rosenberg C . Array CGH e deficiência intelectual. 2015. (Apresentação de Trabalho/Conferência ou palestra).
Rosenberg, Carla . Da citogenética a citogenômica: aplicações relevantes. 2015. (Apresentação de Trabalho/Conferência ou palestra).
CAMPAGNARY, F. ; SANTOS, A. ; KREPISCHI, A. C. V. ; Pearson, P.L. ; Rosenberg, Carla . Diagnostic efficiency of intellectual disability etiology by a combination of SNP arrays and targeted gene sequencing.. 2015. (Apresentação de Trabalho/Comunicação).
Mingroni-Netto, R.C. ; FREITAS, ÉRIKA ; UEHARA, DANIELA T. ; AURICCHIO, MARIA TERESA B. M. ; OITICICA, JEANNE ; SILVA, A. G. ; Rosenberg, C ; Krepischi, A. C. . Genomic copy number alterations in non-syndromic. 2015. (Apresentação de Trabalho/Comunicação).
Villela, D ; Krepischi, A. C. ; ROSENBERG, C. . Does increase in genomic microarray resolution result in increased diagnostic yield?. 2015. (Apresentação de Trabalho/Comunicação).
Mingroni-Netto, R.C. ; FREITAS, ÉRIKA ; UEHARA, DANIELA T. ; AURICCHIO, MARIA TERESA B. M. ; OITICICA, JEANNE ; SILVA, A. G. ; ROSENBERG, C. ; Krepischi, A. C. . Genomic copy number alterations in non-syndromic hearing loss. 2015. (Apresentação de Trabalho/Congresso).
Rosenberg, C . Current array CGH diagnosis in mental impairment and congenital abnormalities in Brazil.. 2012. (Apresentação de Trabalho/Congresso).
RODRIGUES, T. C. ; Krepischi, A.C.V. ; Bertola, Debora Romeo ; KOK, F. ; Rosenberg, C . The logistcs and result of array CGH diagnosis in mental retardation and congenital abnormalities in Brazil.. 2011. (Apresentação de Trabalho/Congresso).
RODRIGUES, T. C. ; Krepischi, A.C.V. ; Rosenberg, C . Narrowing the chromosome driver regions in prostate cancer by array-CGH.. 2011. (Apresentação de Trabalho/Congresso).
Krepischi, A.C.V. ; Rosenberg, C . Genome-wide profile of somatic copy number alterations in Wilms Tumor: Comparison between samples derived from patients with and without relapse. 2011. (Apresentação de Trabalho/Conferência ou palestra).
CAPELI, L. P. ; Krepischi, A.C.V. ; Rosenberg, C. . Germline submicroscopic chromosome imbalances in pediatric cancer. 2011. (Apresentação de Trabalho/Congresso).
Fidalgo, F. ; CARRARO, D.M. ; Rosenberg, C ; Krepischi, A.C.V. . High resolution genome-wide profile of invasive breast carcinoma and correlation with disease progression. 2011. (Apresentação de Trabalho/Congresso).
Villela, D ; Schlesinger, D ; Krepischi, A.C.V. ; Rosenberg, C . Genomic Imbalance in Argyrophilic Grain Disease. 2011. (Apresentação de Trabalho/Congresso).
CAPELI, L. P. ; Krepischi, Ana C.V. ; Rosenberg, C . GERM-LINE SUBMICROSCOPIC CHROMOSOME IMBALANCES IN PEDIATRIC CANCER. 2011. (Apresentação de Trabalho/Comunicação).
Rosenberg, C ; GONCALVES, A. ; SANTOS, E. M. M. ; CAPELI, L. P. ; Costa, Silvia S. ; ACHATZ, M. I. ; BRENTANI, R. ; Krepischi, A.C.V. . Are de novo or rare germline copy number changes higher in probands from families with cancer predisposition than in controls?. 2010. (Apresentação de Trabalho/Simpósio).
MARTYN, M. ; Krepischi, A.C.V. ; ROSENBERG, C. ; KOK, F. . Investigation of chromosomal rearrangements by comparative genomic hybridization on arrays (CGH) in patients with mental retardation and agenesis of the corpus callosum. 2010. (Apresentação de Trabalho/Congresso).
Rosenberg, C ; GONCALVES, A. ; SANTOS, E. M. M. ; CAPELI, L. P. ; Costa, Silvia S. ; ACHATZ, M. I. ; BRENTANI, R. ; Krepischi, A.C.V. . Germinative copy number changes in familial cancer predisposition.. 2010. (Apresentação de Trabalho/Congresso).
Rosenberg, C ; GONCALVES, A. ; SANTOS, E. M. M. ; CAPELI, L. P. ; Costa, Silvia S. ; ACHATZ, M. I. ; BRENTANI, R. ; Krepischi, A.C.V. . Há um aumento no número de cópias de sequências de DNA em famílias com predisposição a câncer?. 2010. (Apresentação de Trabalho/Congresso).
FREITAS, E. ; Bertola, Debora R. ; Krepischi, Ana Cristina V. ; Rosenberg, C . Deleção da região crítica DGS2 em uma paciente com translocação t(1;10)(p22;p11.2) aparentemente balanceada. 2009. (Apresentação de Trabalho/Simpósio).
CAPELI, L. P. ; Krepischi, A.C.V. ; HECK, B. ; CAMARGO, B. ; Rosenberg, C . Aplicação da técnica de hibridação genômica comparativa baseada em arrays (aCGH) no estudo de neoplasias infantis. 2009. (Apresentação de Trabalho/Simpósio).
Coqueti, K. N. ; OTTO, P A ; Rosenberg, C ; Vianna-Morgante, Angela Maria . Evaluating the contribution of X-chromosome mutations to mental retardation based on the pattern of X inactivation in mothers of affected boys. 2009. (Apresentação de Trabalho/Conferência ou palestra).
Rosenberg, C ; Pearson, Peter Lees . Is the excess of male retardation caused by functional and structural peculiarities of the X chromosome?. 2009. (Apresentação de Trabalho/Conferência ou palestra).
Krepischi, A.C.V. ; KNIJNENBURG, J ; Bertola, Debora Romeo ; Kim, C A ; Kok, F ; Vianna-Morgante, Angela Maria ; Rosenberg, C . 2q24.2 microdeletions encompassing SLC4A10 gene are associatted with idiopathix epilepsy and mental impairment. 2009. (Apresentação de Trabalho/Conferência ou palestra).
Rosenberg, C . Investigação de Rearranjos cromossômicos por CCGH-array em pacientes com retardo mental e agenesia de corpo caloso. 2008. (Apresentação de Trabalho/Congresso).

Outras produções

Rosenberg, Carla . O uso de ferramentas moleculares parea diagnóstico genético de deficiência intelectual. 2013. (Curso de curta duração ministrado/Extensão).

ROSENBERG, C. . Variabilidade do genoma humano: impacto clínico ou variação normal?. 2006. (Curso de curta duração ministrado/Extensão).

ROSENBERG, C. . Investigação de rearranjos cromossômicos. 2006. (Curso de curta duração ministrado/Extensão).

ROSENBERG, C. ; KREPISCHI-SANTOS, A. C. V. . Citogenética Molecular para a investigação de Alterações no genoma. 2006. (Curso de curta duração ministrado/Extensão).

TANKE, H J ; ROSENBERG, C. ; SZUHAI, K . 1st workshop of the Marie-Curie Conferences and training courses on arrayCGH and molecular cytogenetics. 2005. (Curso de curta duração ministrado/Extensão).

Projetos de pesquisa

2009 - Atual

DESEQUILÍBRIOS GENÔMICOS SUBMICROSCÓPICOS EM QUADROS CLÍNICOS ESPECÍFICOS DE ANOMALIAS CONGÊNITAS E DEFICIÊNCIA MENTAL, Descrição: Projeto temático aprovado pela FAPESP. , Situação: Em andamento; Natureza: Pesquisa. , Alunos envolvidos: Doutorado: (2) . , Integrantes: Carla Rosenberg - Coordenador / Vianna-Morgante, A. M. - Integrante / Mingroni-Netto, RC - Integrante / Krepischi, Ana Cristina V. - Integrante / Tatiane Cristina Rodrigues - Integrante / Freitas, Érika L. - Integrante / Darine C. Villela - Integrante., Financiador(es): Fundação de Amparo à Pesquisa do Estado de São Paulo - Auxílio financeiro.
2004 - 2008

Arrays genômicos em citogenética de alta resolução:, Descrição: Projeto como Pesquisadora visitante. , Situação: Concluído; Natureza: Pesquisa. , Integrantes: Carla Rosenberg - Coordenador.
2001 - Atual

Chromosomal-specific rearrangements of bone and soft tissue tumors which are not cytogenetically characterized: a multicolor fluorescence in situ hybridization approach, Descrição: Projeto de pos-graduacao financiado pela Fundacao Holandesa do Cancer (KWF) para estudar citogeneticamente tipos de sarcoma. O financiamento permite contratar um pos-doc e um tecnico de nivel superior por 4 anos, alem de cobrir as despesas do projeto e material permanente. , Situação: Em andamento; Natureza: Pesquisa. , Alunos envolvidos: Graduação: (0) / Especialização: (0) / Mestrado acadêmico: (0) / Mestrado profissional: (0) / Doutorado: (1) . , Integrantes: Carla Rosenberg - Coordenador., Financiador(es): Dutch Cancer Foundation - Auxílio financeiro., Número de produções C, T & A: 2
1995 - 1998

Implementacao de CGH para o estudo do Cancer, Descrição: Esse projeto financiado pelo PGD, financiou o estabelecimento de um "CGH facility" coordenado por mim e servindo a varias instituicoes holandesas: Leiden university Medical center (Departamentos de Pathologia e de Biologia Celular" Daniel den Hoed Cancer Institute Erasmus University Durante 3 anos, a tecnica foi implementada e estudou grande numero de amostras de diversos tipos de tumores (ver publicacoes). , Situação: Concluído; Natureza: Pesquisa. , Alunos envolvidos: Graduação: (0) / Especialização: (0) / Mestrado acadêmico: (0) / Mestrado profissional: (0) / Doutorado: (3) . , Integrantes: Carla Rosenberg - Coordenador / H J Tanke - Integrante / E Geelen - Integrante / J C Alers - Integrante / A K Raap - Integrante / L H Looijenga - Integrante / M Mostert - Integrante / J. G. M. V Bovee, - Integrante / C J Cornelisse - Integrante / Herman van Dekken - Integrante., Financiador(es): Leiden University - Cooperação / Daniel Den Hoed Cancer Institute - Cooperação / Pathology And Growth Differenciation - Auxílio financeiro / Erasmus University - Cooperação.
1994 - 1995

Caracterizacao por FISH em cromatina de sequencias transgenicas em camundongos, Descrição: O projeto se destinava a verificar o papel de genes especificos no mal de Alzeimer em camundongos transgenicos contendo YACs com genes candidatos. O mapeamento e caracterizacao dessas sequencias inseridas por FISH de alta resolucao era necessario para determinar o local de insercao, numero de copias e integridade das sequencias. , Situação: Concluído; Natureza: Pesquisa. , Alunos envolvidos: Graduação: (0) / Especialização: (0) / Mestrado acadêmico: (0) / Mestrado profissional: (0) / Doutorado: (0) . , Integrantes: Carla Rosenberg - Coordenador / G Stetten - Integrante / J D Gearhart - Integrante., Financiador(es): National Institute of Health - Auxílio financeiro., Número de produções C, T & A: 2
1993 - 1994

Desenvolvimento da tecnica de FISH em cromatina de fungo para visualizacao de forquilhas de replicacao, Descrição: O projeto desenvolvido durante 4 meses como pesquisadora visitante no departamento de Genetica Humana da Universidade de Leiden resultou na observacao por FISH em cromatina descondensada das forquilhas de replicacao dos YACs de Distrofia muscular. , Situação: Concluído; Natureza: Pesquisa. , Alunos envolvidos: Graduação: (0) / Especialização: (0) / Mestrado acadêmico: (0) / Mestrado profissional: (0) / Doutorado: (0) . , Integrantes: Carla Rosenberg - Coordenador / Johan den Dunnen - Integrante., Financiador(es): Fundação de Amparo à Pesquisa do Estado de São Paulo - Bolsa., Número de produções C, T & A: 1
1993 - 1994

Uso de hibridacao in situ para diagnostico de distrofia muscular, Descrição: Investigacao sobre o uso de cosmideos cobrindo o gene da distrofina para diagnostico de heterozigotas por FISH. , Situação: Concluído; Natureza: Pesquisa. , Alunos envolvidos: Graduação: (0) / Especialização: (0) / Mestrado acadêmico: (0) / Mestrado profissional: (0) / Doutorado: (0) . , Integrantes: Carla Rosenberg - Coordenador / M Vainzof - Integrante / Johan den Dunnen - Integrante / Leda Navajas - Integrante., Financiador(es): Leiden University Medical Center - Cooperação / Oncor - Auxílio financeiro / Universidade de São Paulo - Cooperação., Número de produções C, T & A: 1

Prêmios

2008

Representante do ISCN (international system for cytogenetic nomenclature), .

2007

Representante latino-americana eleita do comite do ISCN, Comite do International Sistem for Cytogenetic Nomenclature.

2007

Membro convidado Consórcio DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources), Sanger Center - Wellcome Trust - Cambridge - Reino Unido.

2006

Membro convidado Consórcio DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources), Sanger Center - Wellcome Trust - Cambridge - Reino Unido.

2005

Membro convidado do Consórcio DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources), Sanger Center - Wellcome Trust - Cambridge - Reino Unido.

Histórico profissional

Endereço profissional

Universidade de São Paulo, Instituto de Biociências. , R. Do Matao 277, Butanta, 05422970 - São Paulo, SP - Brasil, Telefone: (11) 30917573

Experiência profissional

2008 - 2009

Fundação Antônio Prudente

Vínculo: Celetista, Enquadramento Funcional: Pesquisador, Carga horária: 40

1999 - 2003

Leiden University Medical Center

Vínculo: Professor Associado, Enquadramento Funcional: Professor Associado, Carga horária: 32

Outras informações:
Posicao permanente

Atividades

03/2004
Pesquisa e desenvolvimento, Departamento Molecular Cell Biology, Laboratorio Cytochemistry And Cytometry.,Linhas de pesquisa
01/1999
Pesquisa e desenvolvimento, Departamento Molecular Cell Biology, Laboratorio Cytochemistry And Cytometry.,Linhas de pesquisa
01/1999 - 12/2003
Ensino, Biomedicos, Nível: Graduação,Disciplinas ministradas, Biologia Molecular

1995 - 1998

Erasmus University

Vínculo: Celetista, Enquadramento Funcional: Pesquisador, Carga horária: 0

1995 - 1998

Erasmus University

Vínculo: Celetista, Enquadramento Funcional: Pesquisador, Carga horária: 0

Atividades

04/1997 - 04/1997
Treinamentos ministrados , Pathology Growth Differenciation.,Treinamentos ministrados, Comparative Genomic Hybridization practical course

1994 - 1995

Johns Hopkins University

Vínculo: Professor associado, Enquadramento Funcional: Professor associado, Carga horária: 0

Atividades

08/1994 - 07/1995
Pesquisa e desenvolvimento, Faculadade de Medicina, Dept Obstetrics Gynecology.,Linhas de pesquisa

2009 - Atual

Universidade de São Paulo

Vínculo: Servidor Público, Enquadramento Funcional: Professor Assistente Doutor, Carga horária: 40, Regime: Dedicação exclusiva.

2004 - 2008

Universidade de São Paulo

Vínculo: Bolsista, Enquadramento Funcional: Pesquisador visitante, Carga horária: 40

1992 - 1994

Universidade de São Paulo

Vínculo: Celetista, Enquadramento Funcional: PROFESSOR DOUTOR, Carga horária: 40, Regime: Dedicação exclusiva.

Outras informações:
Dept Biologia, IB, USP

Atividades

03/2004
Pesquisa e desenvolvimento, Instituto de Biociências, Departamento de Biologia.,Linhas de pesquisa
01/1992 - 06/1994
Pesquisa e desenvolvimento, Instituto de Biociências.,Linhas de pesquisa
01/1992 - 06/1994
Ensino, Genetica Para Medicina, Nível: Graduação,Disciplinas ministradas, Genetica para Medicina