Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/62351| Título: | 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. |
| Palavras-chave: | CNVs Neurodevelopment CNVs, Neurodevelopment, Genotype-phenotype correlation CUL4B overexpression Genotype-phenotype correlation |
| Data: | 5-Jul-2019 |
| Editora: | BMC |
| Revista: | Orphanet Journal of Rare Diseases |
| Citação: | Lopes, F., Torres, F., Soares, G., et. al. (2019). Genomic imbalances defining novel intellectual disability associated loci. Orphanet journal of rare diseases, 14(1), 164. |
| Resumo(s): | 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). |
| Tipo: | Artigo |
| URI: | https://hdl.handle.net/1822/62351 |
| DOI: | 10.1186/s13023-019-1135-0 |
| ISSN: | 1750-1172 |
| e-ISSN: | 1750-1172 |
| Versão da editora: | https://link.springer.com/article/10.1186/s13023-019-1135-0#citeas |
| Arbitragem científica: | yes |
| Acesso: | Acesso aberto |
| Aparece nas coleções: |
Ficheiros deste registo:
| Ficheiro | Descrição | Tamanho | Formato | |
|---|---|---|---|---|
| Proofs_13023_2019_1135_Author.pdf | 4,51 MB | Adobe PDF | Ver/Abrir |
