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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2008-2-7
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-11533716,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-12068376,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-12619160,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-1281384,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-12952017,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-14628292,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15060094,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15173227,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15197683,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15273396,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15286789,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15895083,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-15918152,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16141005,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16179222,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16199551,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16482228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16490798,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16651370,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16826518,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-16909388,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-17015230,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-17122085,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-17160897,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-17304053,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/18047645-9724321
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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:status |
MEDLINE
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pubmed:issn |
1471-2164
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pubmed:author |
pubmed-author:ArmengolLL,
pubmed-author:ArranzJ AJA,
pubmed-author:BadenasCC,
pubmed-author:EstivillXX,
pubmed-author:FernándezII,
pubmed-author:GonzálezEE,
pubmed-author:GuitartMM,
pubmed-author:MadrigalII,
pubmed-author:MartínezFF,
pubmed-author:MilàMM,
pubmed-author:Pérez-JuradoL ALA,
pubmed-author:Rodríguez-RevengaLL,
pubmed-author:RodriguezBB,
pubmed-author:SánchezAA,
pubmed-author:TejadaMiM
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pubmed:issnType |
Electronic
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
443
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:18047645-Child,
pubmed-meshheading:18047645-Child, Preschool,
pubmed-meshheading:18047645-Chromosome Aberrations,
pubmed-meshheading:18047645-Chromosome Mapping,
pubmed-meshheading:18047645-Chromosomes, Artificial, Bacterial,
pubmed-meshheading:18047645-Chromosomes, Human, X,
pubmed-meshheading:18047645-Gene Deletion,
pubmed-meshheading:18047645-Gene Dosage,
pubmed-meshheading:18047645-Gene Duplication,
pubmed-meshheading:18047645-Genetic Variation,
pubmed-meshheading:18047645-Humans,
pubmed-meshheading:18047645-Male,
pubmed-meshheading:18047645-Mental Retardation, X-Linked,
pubmed-meshheading:18047645-Microarray Analysis,
pubmed-meshheading:18047645-Nucleic Acid Hybridization,
pubmed-meshheading:18047645-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:18047645-Phenotype,
pubmed-meshheading:18047645-Sensitivity and Specificity
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pubmed:year |
2007
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pubmed:articleTitle |
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
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pubmed:affiliation |
Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain. imadriba@gmail.com
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Evaluation Studies,
Validation Studies
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