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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2001-7-2
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pubmed:abstractText |
Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-10066033,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-10417298,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-10508514,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-10577905,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-10826991,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-1281384,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-1606614,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-1734712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-2108956,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-2440339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-6638958,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-8651287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-8651313,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-8826444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9245997,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9258253,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9310472,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9354806,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9598723,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9792883,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9863596,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11432961-9887372
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Chromosomal Proteins, Non-Histone,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/FMR1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Fragile X Mental Retardation Protein,
http://linkedlifedata.com/resource/pubmed/chemical/MECP2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Methyl-CpG-Binding Protein 2,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Androgen,
http://linkedlifedata.com/resource/pubmed/chemical/Repressor Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:AnvretMM,
pubmed-author:ChellyJJ,
pubmed-author:ChevillardCC,
pubmed-author:FontèsMM,
pubmed-author:KpebeAA,
pubmed-author:LévyNN,
pubmed-author:LabellaRR,
pubmed-author:SchwartzC ECE,
pubmed-author:TardieuMM,
pubmed-author:VillardLL,
pubmed-author:XiangFF,
pubmed-author:ZhangZZ
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pubmed:issnType |
Electronic
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pubmed:volume |
38
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
435-42
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11432961-Alleles,
pubmed-meshheading:11432961-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:11432961-Chromosome Segregation,
pubmed-meshheading:11432961-DNA Mutational Analysis,
pubmed-meshheading:11432961-DNA-Binding Proteins,
pubmed-meshheading:11432961-Dosage Compensation, Genetic,
pubmed-meshheading:11432961-Female,
pubmed-meshheading:11432961-Fragile X Mental Retardation Protein,
pubmed-meshheading:11432961-Genetic Testing,
pubmed-meshheading:11432961-Haplotypes,
pubmed-meshheading:11432961-Humans,
pubmed-meshheading:11432961-Male,
pubmed-meshheading:11432961-Methyl-CpG-Binding Protein 2,
pubmed-meshheading:11432961-Models, Genetic,
pubmed-meshheading:11432961-Mutation,
pubmed-meshheading:11432961-Nerve Tissue Proteins,
pubmed-meshheading:11432961-Nuclear Family,
pubmed-meshheading:11432961-Pedigree,
pubmed-meshheading:11432961-Polymorphism, Genetic,
pubmed-meshheading:11432961-RNA, Messenger,
pubmed-meshheading:11432961-RNA-Binding Proteins,
pubmed-meshheading:11432961-Receptors, Androgen,
pubmed-meshheading:11432961-Repressor Proteins,
pubmed-meshheading:11432961-Rett Syndrome,
pubmed-meshheading:11432961-X Chromosome
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pubmed:year |
2001
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pubmed:articleTitle |
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
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pubmed:affiliation |
INSERM U491, Faculté de Médecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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