Repository logo
 
Publication

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients

dc.contributor.authorCarreira, IM
dc.contributor.authorFerreira, SI
dc.contributor.authorMatoso, E
dc.contributor.authorPires, LM
dc.contributor.authorFerrão, J
dc.contributor.authorJardim, A
dc.contributor.authorMascarenhas, A
dc.contributor.authorPinto, M
dc.contributor.authorLavoura, N
dc.contributor.authorPais, C
dc.contributor.authorPaiva, P
dc.contributor.authorSimões, L
dc.contributor.authorCaramelo, F
dc.contributor.authorRamos, L
dc.contributor.authorVenâncio, M
dc.contributor.authorRamos, F
dc.contributor.authorBeleza, A
dc.contributor.authorSá, J
dc.contributor.authorSaraiva, J
dc.contributor.authorBarbosa de Melo, J
dc.date.accessioned2017-08-25T12:04:04Z
dc.date.available2017-08-25T12:04:04Z
dc.date.issued2015
dc.description.abstractArray-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMol Cytogenet. 2015 Dec 30;8:103. dpt_PT
dc.identifier.doi10.1186/s13039-015-0202-zpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.4/2075
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectAnomalias Congénitas Múltiplaspt_PT
dc.subjectPerturbação Autísticapt_PT
dc.subjectDeficiência Intelectualpt_PT
dc.titleCopy number variants prioritization after array-CGH analysis - a cohort of 1000 patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.startPage103pt_PT
oaire.citation.volume8pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
13039_2015_Article_202.pdf
Size:
1 MB
Format:
Adobe Portable Document Format
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description: