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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-4-8
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pubmed:abstractText |
Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1945-7197
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pubmed:author |
pubmed-author:AlbisuM AMA,
pubmed-author:AndaluzPP,
pubmed-author:AndradeMM,
pubmed-author:AngerriOO,
pubmed-author:ArroyoJJ,
pubmed-author:AudiLL,
pubmed-author:BeneytoMM,
pubmed-author:Bermúdez de la VegaJ AJA,
pubmed-author:BlancoAA,
pubmed-author:BorrásVV,
pubmed-author:CaimaríMM,
pubmed-author:CalafJJ,
pubmed-author:CarrascosaAA,
pubmed-author:CarreraMM,
pubmed-author:CastañoLL,
pubmed-author:ClementeMM,
pubmed-author:Del CampoMM,
pubmed-author:Del ValleJJ,
pubmed-author:Fernández-CancioMM,
pubmed-author:FornJJ,
pubmed-author:GabauEE,
pubmed-author:GarcíaEE,
pubmed-author:Gracia-BouthelierRR,
pubmed-author:GranadaM LML,
pubmed-author:Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA),
pubmed-author:GussinyéMM,
pubmed-author:Hernández de la CalleII,
pubmed-author:LabartaJ IJI,
pubmed-author:LapunzinaPP,
pubmed-author:LledóGG,
pubmed-author:Martínez-AedoM JMJ,
pubmed-author:Martínez-MoraJJ,
pubmed-author:Martínez-SopenaM JMJ,
pubmed-author:MayayoEE,
pubmed-author:Pérez-AytesAA,
pubmed-author:PivoKK,
pubmed-author:RodríguezAA,
pubmed-author:Sánchez Del PozoJJ,
pubmed-author:SalinasII,
pubmed-author:SeguraAA,
pubmed-author:ToveyEE,
pubmed-author:VendrellTT,
pubmed-author:Vicens-CalvetEE,
pubmed-author:VilaróEE,
pubmed-author:YesteDD
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pubmed:issnType |
Electronic
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1876-88
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:20150575-3-Oxo-5-alpha-Steroid 4-Dehydrogenase,
pubmed-meshheading:20150575-Adolescent,
pubmed-meshheading:20150575-Child,
pubmed-meshheading:20150575-Child, Preschool,
pubmed-meshheading:20150575-Exons,
pubmed-meshheading:20150575-Female,
pubmed-meshheading:20150575-Fibroblasts,
pubmed-meshheading:20150575-Gonadal Dysgenesis, 46,XY,
pubmed-meshheading:20150575-Heterozygote,
pubmed-meshheading:20150575-Humans,
pubmed-meshheading:20150575-Infant,
pubmed-meshheading:20150575-Introns,
pubmed-meshheading:20150575-Male,
pubmed-meshheading:20150575-Mutation,
pubmed-meshheading:20150575-Phenotype,
pubmed-meshheading:20150575-Receptors, Androgen,
pubmed-meshheading:20150575-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:20150575-Sexual Behavior,
pubmed-meshheading:20150575-Testis
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pubmed:year |
2010
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pubmed:articleTitle |
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
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pubmed:affiliation |
Unidad Investigación Endocrinología Pediátrica, Institut de Recerca, Hospital Vall d'Hebron, Paseo Vall d'Hebron 119, 08035 Barcelona, Spain. laudi@ir.vhebron.net
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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