1. DIGITAL.CSIC
  2. Biología y Biomedicina
  3. Instituto de Biología y Genética Molecular (IBGM)
  4. (IBGM) Artículos
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/5196
COMPARTIR / EXPORTAR:
logo share SHARE logo core CORE BASE

Comparte tu historia
de Acceso Abierto
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE

Invitar a revisión por pares abierta
Campo DC Valor Lengua/Idioma
dc.contributor.authorMadrigal, Irene-
dc.contributor.authorRodríguez-Revenga, Laia-
dc.contributor.authorSánchez, Ana-
dc.contributor.authorMartínez, Francisco-
dc.contributor.authorFernández Carvajal, M. Isabel-
dc.contributor.authorArranz, J. A.-
dc.contributor.authorTejada, María Isabel-
dc.contributor.authorPérez-Jurado, Luis Alberto-
dc.contributor.authorEstivill, Xavier-
dc.contributor.authorMilà, Montserrat-
dc.date.accessioned2008-06-20T00:51:23Z-
dc.date.available2008-06-20T00:51:23Z-
dc.date.issued2007-11-29-
dc.identifier.citationBMC Genomics 8: 443 (2007)en_US
dc.identifier.issn1471-2164-
dc.identifier.urihttp://hdl.handle.net/10261/5196-
dc.descriptionContiene 3 ficheros adicionales con información suplementaria.-- et al.en_US
dc.description.abstract[Background] Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects.en_US
dc.description.abstract[Results] Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%).en_US
dc.description.abstract[Conclusion] This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.en_US
dc.description.sponsorshipThe authors thank the "Genoma España" and Genome Canada joint R+D+I projects in human health, plants and aquiculture; the former "Departament d'Universitats i Societat de la Informació" (DURSI) and the "Departament de Salut", from the Catalan Autonomous Government (2005SGR00008 - Generalitat de Catalunya); the Instituto de Salud Carlos III (PI041126, CIBER-ESP), the EU's Sixth Framework Programme [FP6-2005-LIFESCIHEALTH-7; ANEUPLOIDY No. 037627] and Fundación Areces (U-2006-FARECES-O).en_US
dc.format.extent410143 bytes-
dc.format.extent37047 bytes-
dc.format.extent36352 bytes-
dc.format.extent28672 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeimage/jpeg-
dc.format.mimetypeapplication/msword-
dc.format.mimetypeapplication/msword-
dc.language.isoengen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofPublisher's version-
dc.rightsopenAccessen_US
dc.subjectMental retardationen_US
dc.subjectX chromosomeen_US
dc.subjectCopy Number Variations (CNV)en_US
dc.subjectArray comparative genomic hybridizationen_US
dc.subjectTiling path arrayen_US
dc.titleX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardationen_US
dc.typeartículoen_US
dc.identifier.doi10.1186/1471-2164-8-443-
dc.description.peerreviewedPeer revieweden_US
dc.relation.publisherversionhttp://dx.doi.org/10.1186/1471-2164-8-443-
dc.identifier.pmid18047645-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.grantfulltextopen-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
item.languageiso639-1en-
Aparece en las colecciones: (IBGM) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato
X_chromosome.pdfArticle main text400,53 kBAdobe PDFVista previa
Visualizar/Abrir
1471-2164-8-443-S1.jpegPedigrees of the 8 subjects with clinically relevant imbalances detected by the aCGH36,18 kBJPEGVista previa
Visualizar/Abrir
1471-2164-8-443-S2.docSequences of designed MLPA probes35,5 kBMicrosoft WordVisualizar/Abrir
1471-2164-8-443-S3.docPrimers for OPHN1 gene28 kBMicrosoft WordVisualizar/Abrir
Show simple item record

CORE Recommender

PubMed Central
Citations

24
checked on 15-abr-2024

SCOPUSTM   
Citations

58
checked on 16-abr-2024

WEB OF SCIENCETM
Citations

52
checked on 28-feb-2024

Page view(s)

575
checked on 19-abr-2024

Download(s)

467
checked on 19-abr-2024

Google ScholarTM

Check

Altmetric

Altmetric


Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.