1. Universidade do Minho
  2. Escola de Medicina | School of Medicine
  3. Instituto de Investigação em Ciências da Vida e da Saúde
  4. ICVS - Artigos em revistas internacionais / Papers in international journals
Utilize este identificador para referenciar este registo: https://hdl.handle.net/1822/62351

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Campo DCValorIdioma
dc.contributor.authorLopes, Fátima Daniela Teixeirapor
dc.contributor.authorTorres, Fátimapor
dc.contributor.authorSoares, Gabrielapor
dc.contributor.authorBarbosa, Mafaldapor
dc.contributor.authorSilva, Joãopor
dc.contributor.authorDuque, Fredericopor
dc.contributor.authorRocha, Miguelpor
dc.contributor.authorSá, Joaquimpor
dc.contributor.authorOliveira, Guiomarpor
dc.contributor.authorSá, Maria Joãopor
dc.contributor.authorTemudo, Teresapor
dc.contributor.authorSousa, Susanapor
dc.contributor.authorMarques, Carlapor
dc.contributor.authorLopes, Sofiapor
dc.contributor.authorGomes, Catarinapor
dc.contributor.authorBarros, Giselapor
dc.contributor.authorJorge, Armindapor
dc.contributor.authorRocha, Felisbelapor
dc.contributor.authorMartins, Cecíliapor
dc.contributor.authorMesquita, Sandrapor
dc.contributor.authorLoureiro, Susanapor
dc.contributor.authorCardoso, Elisa Mariapor
dc.contributor.authorCálix, Maria Josépor
dc.contributor.authorDias, Andreiapor
dc.contributor.authorMartins, Cristinapor
dc.contributor.authorMota, Céu R.por
dc.contributor.authorAntunes, Dianapor
dc.contributor.authorDupont, Juliettepor
dc.contributor.authorFigueiredo, Sarapor
dc.contributor.authorFigueiroa, Sóniapor
dc.contributor.authorGama-de-Sousa, Susanapor
dc.contributor.authorCruz, Sarapor
dc.contributor.authorSampaio, Adrianapor
dc.contributor.authorEijk, Paulpor
dc.contributor.authorWeiss, Marjan M.por
dc.contributor.authorYlstra, Baukepor
dc.contributor.authorRendeiro, Paulapor
dc.contributor.authorTavares, Purificaçãopor
dc.contributor.authorReis-Lima, Margaridapor
dc.contributor.authorPinto-Basto, Jorgepor
dc.contributor.authorFortuna, Ana Mariapor
dc.contributor.authorMaciel, P.por
dc.date.accessioned2019-11-25T11:31:25Z-
dc.date.available2019-11-25T11:31:25Z-
dc.date.issued2019-07-05-
dc.identifier.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.por
dc.identifier.issn1750-1172por
dc.identifier.urihttps://hdl.handle.net/1822/62351-
dc.description.abstractHigh 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).por
dc.description.sponsorshipThis 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.por
dc.language.isoengpor
dc.publisherBMCpor
dc.relationinfo:eu-repo/grantAgreement/FCT/5876-PPCDTI/83026/PT-
dc.relationinfo:eu-repo/grantAgreement/FCT/5876-PPCDTI/83013/PT-
dc.relationinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F90167%2F2012/PT-
dc.rightsopenAccesspor
dc.subjectCNVspor
dc.subjectNeurodevelopmentpor
dc.subjectCNVs, Neurodevelopment, Genotype-phenotype correlationpor
dc.subjectCUL4B overexpressionpor
dc.subjectGenotype-phenotype correlationpor
dc.titleGenomic imbalances defining novel intellectual disability associated locipor
dc.typearticlepor
dc.peerreviewedyespor
dc.relation.publisherversionhttps://link.springer.com/article/10.1186/s13023-019-1135-0#citeaspor
oaire.citationIssue1por
oaire.citationVolume14por
dc.identifier.eissn1750-1172-
dc.identifier.doi10.1186/s13023-019-1135-0por
dc.identifier.pmid31277718por
dc.subject.fosCiências Médicas::Medicina Básicapor
dc.subject.wosScience & Technologypor
sdum.journalOrphanet Journal of Rare Diseasespor
oaire.versionP-
Aparece nas coleções:ICVS - Artigos em revistas internacionais / Papers in international journals

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