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Genomic imbalances defining novel intellectual disability associated loci
- Source :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central, Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos), Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação, instacron:RCAAP, Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019), Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0, Repositório Científico de Acesso Aberto de Portugal, Repositório Científico de Acesso Aberto de Portugal (RCAAP)
- Publication Year :
- 2019
- Publisher :
- BMC, 2019.
-
Abstract
- 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).<br />This work has been funded by FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects: PIC/IC/83026/2007, PIC/IC/83013/2007 and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER). FL was supported by Foundation for Science and Technology (FCT) through the fellowship SFRH/BD/90167/2012.
- Subjects :
- 0301 basic medicine
Male
Candidate gene
Genotype-phenotype correlation
endocrine system diseases
Medicina Básica [Ciências Médicas]
Neurodevelopment
lcsh:Medicine
Disease
030105 genetics & heredity
0302 clinical medicine
Intellectual disability
Pharmacology (medical)
Copy-number variation
Genetics (clinical)
Genetics
Comparative Genomic Hybridization
General Medicine
Genomics
Phenotype
3. Good health
Pedigree
Ciências Médicas::Medicina Básica
Female
DNA Copy Number Variations
Copy number analysis
Biology
Histone-Lysine N-Methyltransferase / genetics
03 medical and health sciences
DNA Copy Number Variations / genetics
Intellectual Disability
mental disorders
medicine
Humans
Intellectual Disability / genetics
Genetic Association Studies
CNVs
Chromosome Aberrations
Science & Technology
Research
lcsh:R
Histone-Lysine N-Methyltransferase
medicine.disease
Human genetics
CNVs, Neurodevelopment, Genotype-phenotype correlation
CUL4B overexpression
Etiology
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central, Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos), Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação, instacron:RCAAP, Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019), Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0, Repositório Científico de Acesso Aberto de Portugal, Repositório Científico de Acesso Aberto de Portugal (RCAAP)
- Accession number :
- edsair.doi.dedup.....2a79b20530bd567d73d202397027bace