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rdf:type |
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lifeskim:mentions |
umls-concept:C0004599,
umls-concept:C0007120,
umls-concept:C0012634,
umls-concept:C0017428,
umls-concept:C0020202,
umls-concept:C0033036,
umls-concept:C0205107,
umls-concept:C0280547,
umls-concept:C0684262,
umls-concept:C0796349,
umls-concept:C0887889,
umls-concept:C0949780,
umls-concept:C1273518,
umls-concept:C1510941,
umls-concept:C1511695,
umls-concept:C1553586
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pubmed:issue |
2
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pubmed:dateCreated |
2004-2-3
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pubmed:abstractText |
Proximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup(17)(p11.2p11.2) syndrome. While 80-90% or more of the rearrangements resulting in each disorder are recurrent, several non-recurrent deletions or duplications of varying sizes within proximal 17p also have been characterised using fluorescence in situ hybridisation (FISH).
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-10398439,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-10615134,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-11159946,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-11381029,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-11818139,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-11923193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-11997338,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-11997339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-12649807,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-12915473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-1303282,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-1639385,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-1677316,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-1746552,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-2425619,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-3728561,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-8004087,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-8105684,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-8422677,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-8651284,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-9096765,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-9326934,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-9491330,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-9605871,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14757858-9973284
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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:month |
Feb
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
113-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:14757858-Centromere,
pubmed-meshheading:14757858-Chromosome Breakage,
pubmed-meshheading:14757858-Chromosome Deletion,
pubmed-meshheading:14757858-Chromosome Mapping,
pubmed-meshheading:14757858-Chromosomes, Artificial, Bacterial,
pubmed-meshheading:14757858-Chromosomes, Artificial, P1 Bacteriophage,
pubmed-meshheading:14757858-Chromosomes, Human, Pair 17,
pubmed-meshheading:14757858-DNA,
pubmed-meshheading:14757858-Electrophoresis, Gel, Pulsed-Field,
pubmed-meshheading:14757858-Female,
pubmed-meshheading:14757858-Gene Duplication,
pubmed-meshheading:14757858-Genetic Diseases, Inborn,
pubmed-meshheading:14757858-Humans,
pubmed-meshheading:14757858-In Situ Hybridization, Fluorescence,
pubmed-meshheading:14757858-Male,
pubmed-meshheading:14757858-Mutation,
pubmed-meshheading:14757858-Nucleic Acid Hybridization,
pubmed-meshheading:14757858-Oligonucleotide Array Sequence Analysis
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pubmed:year |
2004
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pubmed:articleTitle |
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
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pubmed:affiliation |
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Validation Studies
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