Copy number variations (CNVs) in Brazilian patients with autism spectrum disorder (ASD)

Autor: Claudia Ismania Samogy Costa

Publikováno v: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

Autism Spectrum Disorder (ASD) is a heterogeneous group of neurodevelopmental disorders that affects about 1% of the worldwide population and has a strong genetic component. Stereotyped behavior and restricted interests, as well as problems of social

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-20092018-124809/

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes

Autor: Silvia S. Costa, Naila Cristina Vilaça Lourenço, Eloisa de Sá Moreira, Isabela Maya Wahys Silva, Ana Cristina Victorino Krepischi, Elaine Cristina Zachi, Angela Maria Vianna-Morgante, Eduarda Morgana da Silva Montenegro, Mehdi Zarrei, Claudia Ismania Samogy Costa, Elisa Varella Branco, Maria Rita Passos-Bueno, Stephen W. Scherer, Jaqueline Yu Ting Wang, Marilia O. Scliar, Carla Rosenberg

Publikováno v: Clinical Genetics. 101:134-141

Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25d87ce292ebeec4d95e37f3851e9f64
https://doi.org/10.1111/cge.14072

Author response for 'Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes'

Autor: Claudia Ismania Samogy Costa, Elisa Varella Branco, Ana Cristina Victorino Krepischi, Stephen W. Scherer, Silvia S. Costa, Maria Rita Passos-Bueno, Mehdi Zarrei, Jaqueline Yu Ting Wang, Angela Maria Vianna-Morgante, Marilia O. Scliar, Isabela Maya Wahys Silva, Carla Rosenberg, Naila Cristina Vilaça Lourenço, Elaine Cristina Zachi, Eduarda Morgana da Silva Montenegro, Eloisa de Sá Moreira

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b6ec641422d310e6cefef5bcbffe037d
https://doi.org/10.1111/cge.14072/v2/response1

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

Autor: Ricardo Henrique Almeida Barbosa, Helen Conceição Ferraz, Ana Beatriz Alvarez Perez, Carla Rosenberg, Claudia Ismania Samogy-Costa, Rodrigo Ambrosio Fock, Maria Rita Passos-Bueno, André Pessoa, Frederico Monfardini, Elisa Varella-Branco, Maria D. Vibranovski, Ana Cristina Victorino Krepischi, Naila Cristina Vilaça Lourenço

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Journal of Neurodevelopmental Disorders

Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHAN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cac4e566313f2e69c27272b3017b35