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1
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
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A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

Giselle Izzo Erika L Freitas; Ana Cristina Victorino Krepischi; Peter L Pearson; Luciana R Vasques; Maria Rita Passos-Bueno; Débora R Bertola; Carla Rosenberg

European Journal of Medical Genetics Issy les Moulineaux v. 56, n. 4, p. 222-225, Apr. 2013

Issy Les Mouleneaux 2013

Item não circula. Consulte sua biblioteca.(Acessar)

2
Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization
Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization
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Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

Carla Rosenberg L Navajas; Dulci Fonseca Vagenas; E Bakker; Mariz Vainzof; Maria Rita Passos-Bueno; R I Takata; G J B Van Ommen; Mayana Zatz; J T Den Dunnen

Neuromuscular Disorders v. 8, p. 417-452, 1998

Oxford 1998

Item não circula. Consulte sua biblioteca.(Acessar)

3
Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization
Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization
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Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

Carla Rosenberg L Navajas; Dulci Fonseca Vagenas; E Bakker; Mariz Vainzof; Maria Rita Passos-Bueno; R I Takata; G J B Van Ommen; Mayana Zatz; J T Den Dunnen

Neuromuscular Disorders v. 8, p. 417-452, 1998

Oxford 1998

Item não circula. Consulte sua biblioteca.(Acessar)

4
Craniosynostosis in 10q26 deletion patients a consequence of brain underdevelopment or altered suture biology?
Craniosynostosis in 10q26 deletion patients a consequence of brain underdevelopment or altered suture biology?
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Craniosynostosis in 10q26 deletion patients a consequence of brain underdevelopment or altered suture biology?

Ágatha Cristhina Faria Eliete Rabbi-Bortolini; Maria R. G. O Reboucas; Andreia L. A. de S. Thiago Pereira; Milena G. Tonini Frasson; Rodrigo Atique; Naila Cristina Vilaça Lourenço; Carla Rosenberg; Gerson Shigeru Kobayashi; Maria Rita Passos-Bueno; Flávia Imbroisi Valle Errera

American Journal of Medical Genetics Part A Hoboken online, p. 1-7, Nov. 2015

Hoboken 2015

Item não circula. Consulte sua biblioteca.(Acessar)

5
A Brazilian cohort of individuals with Phelan-McDermid syndrome genotype- phenotype correlation and identification of an atypical case
A Brazilian cohort of individuals with Phelan-McDermid syndrome genotype- phenotype correlation and identification of an atypical case
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A Brazilian cohort of individuals with Phelan-McDermid syndrome genotype- phenotype correlation and identification of an atypical case

Claudia Ismania Samogy-Costa Elisa Varella-Branco; Frederico Monfardini; Helen Ferraz; Rodrigo Ambrosio Fock; Ricardo Henrique Almeida Barbosa; André Luiz Santos Pessoa; Ana Beatriz Alvarez Perez; Naila Lourenço; Maria Vibranovski; Ana Cristina Victorino Krepischi; Carla Rosenberg; Maria Rita Passos-Bueno

Journal of Neurodevelopmental Disorders London v. 11, article 13, 2019

London 2019

Item não circula. Consulte sua biblioteca.(Acessar)

6
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)
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Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Eloisa S Moreira Isabela M.W Silva; Naila Lourenço; Danielle P Moreira; Cintia M Ribeiro; Ana Luiza B Martins; Karina Griesi-Oliveira; Monize Lazar; Sílvia S Costa; Michel Naslavsky; Kátia M Rocha; Meire Aguena; Agnes C Fett-Conte; Mayana Zatz; Carla Rosenberg; Elaine C Zachi; Débora R Bertola; Estevão Vadasz; Maria Rita Passos-Bueno

Research in Autism Spectrum Disorders Philadelphia v. 23, p. 145-151, Mar. 2016

Philadelphia 2016

Item não circula. Consulte sua biblioteca.(Acessar)

7
Congenital limb deficiency genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
Congenital limb deficiency genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
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Congenital limb deficiency genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

Letícia Alves da Rocha Lucas Vieira Lacerda Pires; Guilherme Lopes Yamamoto; José Ricardo Magliocco Ceroni; Rachel Sayuri Honjo; Edgard de Novaes França Bisneto; Luiz Antônio Nunes Oliveira; Carla Rosenberg; Ana Cristina Victorino Krepischi; Maria Rita Passos-Bueno; Chong Ae Kim; Débora Romeo Bertola

Clinical Genetics Hoboken v. 100, n. 5, p. 615-623, 2021

Hoboken 2021

Item não circula. Consulte sua biblioteca.(Acessar)

8
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder
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Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

Karina Griesi Oliveira Mariana Soares Fogo; B. G. G Pinto; A. Y Alves; A. M Suzuki; A. G Morales; Suzana Ezquina; Omar Júlio Sosa; G. J Sutton; D. Y. Sunaga Franze; A. P Bueno; G Seabra; L Sardinha; S. S Costa; Carla Rosenberg; Elaine Cristina Zachi; A. L Sertie; Daniel Martins de Souza; Eduardo Moraes Reis; I Voineagu; Maria Rita Passos-Bueno

Molecular Psychiatry London v. 26, p. 1589–1605, 2021

London 2021

Item não circula. Consulte sua biblioteca.(Acessar)

9
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants models for Xia-Gibbs syndrome
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants models for Xia-Gibbs syndrome
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Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants models for Xia-Gibbs syndrome

Laura Machado Lara Carvalho Elisa Varella Branco; Raquel Delgado Sarafian; Gerson Shigeru Kobayashi; Fabiano Tófoli de Araújo; Lucas Santos Souza; Danielle de Paula Moreira; Gabriella Shih Ping Hsia; Eny Maria Goloni Bertollo; Cecília Barbosa Buck; Silvia Souza da Costa; Davi Mendes Fialho; Felipe Tadeu Galante Rocha de Vasconcelos; Luciano Abreu Brito; Luciana Elena de Souza Fraga Machado; Igor Cabreira Ramos; Lygia da Veiga Pereira; Celia Priszkulnik Koiffmann; Maria Rita Passos-Bueno; Tiago Antonio de Oliveira Mendes; Ana Cristina Victorino Krepischi; Carla Rosenberg

Gene Amsterdam v. 871, art. 147424, 2023

Amsterdam 2023

Item não circula. Consulte sua biblioteca.(Acessar)

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