Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/62351

TitleGenomic imbalances defining novel intellectual disability associated loci
Author(s)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.
KeywordsCNVs
Neurodevelopment
CNVs, Neurodevelopment, Genotype-phenotype correlation
CUL4B overexpression
Genotype-phenotype correlation
Issue date5-Jul-2019
PublisherBMC
JournalOrphanet Journal of Rare Diseases
CitationLopes, F., Torres, F., Soares, G., et. al. (2019). Genomic imbalances defining novel intellectual disability associated loci. Orphanet journal of rare diseases, 14(1), 164.
Abstract(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).
TypeArticle
URIhttp://hdl.handle.net/1822/62351
DOI10.1186/s13023-019-1135-0
ISSN1750-1172
e-ISSN1750-1172
Publisher versionhttps://link.springer.com/article/10.1186/s13023-019-1135-0#citeas
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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