Genomic imbalances defining novel intellectual disability associated loci

• Autor(es): Lopes, Fátima Daniela Teixeira ; Torres, Fátima ; Soares, Gabriela ; Barbosa, Mafalda ; Silva, João ; Duque, Frederico ; Rocha, Miguel ; Sá, Joaquim ; Oliveira, Guiomar ; Sá, Maria João ; Temudo, Teresa ; Sousa, Susana ; Marques, Carla ; Lopes, Sofia ; Gomes, Catarina ; Barros, Gisela ; Jorge, Arminda ; Rocha, Felisbela ; Martins, Cecília ; Mesquita, Sandra ; Loureiro, Susana ; Cardoso, Elisa Maria ; Cálix, Maria José ; Dias, Andreia ; Martins, Cristina ; Mota, Céu R. ; Antunes, Diana ; Dupont, Juliette ; Figueiredo, Sara ; Figueiroa, Sónia ; Gama-de-Sousa, Susana ; Cruz, Sara ; Sampaio, Adriana ; Eijk, Paul ; Weiss, Marjan M. ; Ylstra, Bauke ; Rendeiro, Paula ; Tavares, Purificação ; Reis-Lima, Margarida ; Pinto-Basto, Jorge ; Fortuna, Ana Maria ; Maciel, P.
• Data: 2019
• Identificador Persistente: https://hdl.handle.net/1822/62351
• Origem: RepositóriUM - Universidade do Minho
• Assunto(s): CNVs; Neurodevelopment; CNVs, Neurodevelopment, Genotype-phenotype correlation; CUL4B overexpression; Genotype-phenotype correlation
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Universidade do Minho

Descrição

High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID).