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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 |
2004-10-22
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pubmed:abstractText |
Two half-brothers with similar malformed genitals, who both inherited a maternally derived t(X;5)(q13;p15) translocation, have a phenotype consistent with partial androgen sensitivity syndrome. The aim was to identify the gene disrupted by the X chromosome breakpoint.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0301-0163
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pubmed:author |
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pubmed:copyrightInfo |
Copyright (c) 2004 S. Karger AG, Basel.
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pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
208-14
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15452386-Androgen-Insensitivity Syndrome,
pubmed-meshheading:15452386-Cell Line,
pubmed-meshheading:15452386-Chromosomes, Human, X,
pubmed-meshheading:15452386-Conserved Sequence,
pubmed-meshheading:15452386-Female,
pubmed-meshheading:15452386-Gene Silencing,
pubmed-meshheading:15452386-Humans,
pubmed-meshheading:15452386-Immunoblotting,
pubmed-meshheading:15452386-In Situ Hybridization, Fluorescence,
pubmed-meshheading:15452386-Infant, Newborn,
pubmed-meshheading:15452386-Male,
pubmed-meshheading:15452386-Pedigree,
pubmed-meshheading:15452386-Receptors, Androgen,
pubmed-meshheading:15452386-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15452386-Sequence Homology,
pubmed-meshheading:15452386-Translocation, Genetic
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pubmed:year |
2004
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pubmed:articleTitle |
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?
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pubmed:affiliation |
Centre for Medical Genetics, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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