Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/108276
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dc.contributor.authorPeixoto, Sara-
dc.contributor.authorMelo, Joana B.-
dc.contributor.authorFerrão, José-
dc.contributor.authorPires, Luís M.-
dc.contributor.authorLavoura, Nuno-
dc.contributor.authorPinto, Marta-
dc.contributor.authorOliveira, Guiomar-
dc.contributor.authorCarreira, Isabel M.-
dc.date.accessioned2023-08-22T10:08:07Z-
dc.date.available2023-08-22T10:08:07Z-
dc.date.issued2017-
dc.identifier.issn1755-8166pt
dc.identifier.urihttps://hdl.handle.net/10316/108276-
dc.description.abstractBackground: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital. Results: In this study 150 unrelated children with autism spectrum disorders were analysed for copy number variation in specific regions of chromosomes 15, 16 and 22, using MLPA. All the patients had been previously studied by conventional karyotype and fluorescence in situ hybridization (FISH) analysis for 15(q11.2q13) and, with these techniques, four alterations were identified. The MLPA technique confirmed these four and identified further six alterations by the combined application of the two different panels. Conclusions: Our data show that MLPA is a cost effective straightforward and rapid method for detection of imbalances in a clinically characterized population with autism. It contributes to strengthen the relationship between genotype and phenotype of children with autism, showing the clinical difference between deletions and duplications.pt
dc.language.isoengpt
dc.publisherSpringer Naturept
dc.rightsopenAccesspt
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt
dc.subjectAutismpt
dc.subjectAutism spectrum disorderspt
dc.subjectCopy number variantspt
dc.subjectGenotypept
dc.subjectMultiplex Ligation-dependent Probe Amplification (MLPA)pt
dc.subjectMethylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA)pt
dc.subjectPhenotypept
dc.titleMLPA analysis in a cohort of patients with autismpt
dc.typearticle-
degois.publication.firstPage2pt
degois.publication.issue1pt
degois.publication.titleMolecular Cytogeneticspt
dc.peerreviewedyespt
dc.identifier.doi10.1186/s13039-017-0302-zpt
degois.publication.volume10pt
dc.date.embargo2017-01-01*
uc.date.periodoEmbargo0pt
item.fulltextCom Texto completo-
item.grantfulltextopen-
item.languageiso639-1en-
item.openairetypearticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.orcid0000-0001-5049-2670-
crisitem.author.orcid0000-0003-4031-3880-
crisitem.author.orcid0000-0001-6842-1707-
Appears in Collections:I&D IBILI - Artigos em Revistas Internacionais
I&D CNC - Artigos em Revistas Internacionais
FMUC Medicina - Artigos em Revistas Internacionais
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This item is licensed under a Creative Commons License Creative Commons