Please use this identifier to cite or link to this item: http://repositorio.unitau.br/jspui/handle/20.500.11874/2342
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dc.contributor.authorSantos, Rita de Cassia Stoccopt_BR
dc.contributor.authorCastro N.H.C.pt_BR
dc.contributor.authorHolmes A.L.pt_BR
dc.contributor.authorBeçak, Willypt_BR
dc.contributor.authorTackels-Horne, Darcipt_BR
dc.contributor.authorLindsey C.J.pt_BR
dc.contributor.authorLubs H.A.pt_BR
dc.contributor.authorStevenson R.E.pt_BR
dc.contributor.authorSchwartz C.E.pt_BR
dc.date.accessioned2019-09-12T16:37:07Z-
dc.date.available2019-09-12T16:37:07Z-
dc.date.issued2003-
dc.citation.volume118 Apt_BR
dc.citation.issue3pt_BR
dc.citation.spage255-
dc.citation.epage259-
dc.identifier.issn15524825-
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-0041820361&partnerID=40&md5=b9e91e3d079022484ba926c82dfef990-
dc.identifier.urihttp://repositorio.unitau.br/jspui/handle/20.500.11874/2342-
dc.description.abstractMental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. Of these genes, about 136 are responsible for syndromic X-linked MR (XLMR). One such XLMR syndrome, Stocco dos Santos, was first described in 1991. This family was re-visited, which allowed further delineation of the clinical phenotype. Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983. © 2003 Wiley-Liss, Inc.en
dc.description.provenanceMade available in DSpace on 2019-09-12T16:37:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2003en
dc.languageInglêspt_BR
dc.relation.ispartofAmerican Journal of Medical Genetics-
dc.rightsAcesso Restritopt_BR
dc.sourceScopuspt_BR
dc.subject.otherLinkageen
dc.subject.otherStocco dos Santosen
dc.subject.otherXLMRen
dc.subject.otherXp11.3-q21.3en
dc.subject.otheradulten
dc.subject.otherarticleen
dc.subject.othercase reporten
dc.subject.otherchromosomal localizationen
dc.subject.otherchromosome Xpen
dc.subject.otherchromosome Xqen
dc.subject.otherclinical featureen
dc.subject.otherfamilial diseaseen
dc.subject.othergenetic linkageen
dc.subject.otherhumanen
dc.subject.otherlinkage analysisen
dc.subject.othermaleen
dc.subject.othermental deficiencyen
dc.subject.otherphenotypeen
dc.subject.otherpriority journalen
dc.subject.otherscoring systemen
dc.subject.otherstocco dos santos x linked mental retardation syndromeen
dc.subject.othersyndromeen
dc.subject.otherX chromosome linked disorderen
dc.subject.otherChromosome Mappingen
dc.subject.otherChromosomes, Human, Xen
dc.subject.otherFemaleen
dc.subject.otherGenetic Markersen
dc.subject.otherHumansen
dc.subject.otherLinkage (Genetics)en
dc.subject.otherLod Scoreen
dc.subject.otherMaleen
dc.subject.otherMental Retardation, X-Linkeden
dc.subject.otherPedigreeen
dc.subject.otherPhenotypeen
dc.subject.otherSyndromeen
dc.titleStocco dos Santos X-linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3en
dc.typeArtigo de Periódicopt_BR
dc.description.affiliationStocco dos Santos, R.C., Laboraório de Genética, Instituto Butantan, São Paulo 05503-900, Brazil, Department of Molecular Biology, Universidade de Taubaté, Taubaté, São Paulo, Brazil-
dc.description.affiliationCastro, N.H.C., Laboraório de Genética, Instituto Butantan, São Paulo 05503-900, Brazil-
dc.description.affiliationHolmes, A.L., Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646, United States-
dc.description.affiliationBeçak, W., Laboraório de Genética, Instituto Butantan, São Paulo 05503-900, Brazil-
dc.description.affiliationTackels-Horne, D., Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646, United States-
dc.description.affiliationLindsey, C.J., Departmento de Biofisica, UNIFESP, Sao Paulo, Brazil, Department of Molecular Biology, Universidade de Taubaté, Taubaté, São Paulo, Brazil-
dc.description.affiliationLubs, H.A., Department of Pediatrics, Univ. of Miami School of Medicine, Miami, FL, United States-
dc.description.affiliationStevenson, R.E., Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646, United States-
dc.description.affiliationSchwartz, C.E., Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646, United States-
dc.identifier.scopus2-s2.0-0041820361-
dc.contributor.scopus6602388441pt_BR
dc.contributor.scopus7005445195pt_BR
dc.contributor.scopus57198205892pt_BR
dc.contributor.scopus7004351545pt_BR
dc.contributor.scopus6507023773pt_BR
dc.contributor.scopus7102153110pt_BR
dc.contributor.scopus7006474321pt_BR
dc.contributor.scopus7402603132pt_BR
dc.contributor.scopus7201521655pt_BR
Appears in Collections:Artigos de Periódicos

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