Source:http://linkedlifedata.com/resource/pubmed/id/16323556
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
2005-12-5
|
| pubmed:abstractText |
Contiguous gene syndrome (CGS) is characterized by a series of clinical features resulting from interstitial or terminal deletions of various adjacent genes. Several important genes have been identified in the Xp22.3 region to be responsible for genetically heterogeneous diseases. In this study, fluorescence in situ hybridization (FISH) methods were used to detect the extent of gene deletion related to the phenotypes of patients with Xp-CGS.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
2072-0939
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
28
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
643-50
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:16323556-Albinism, Ocular,
pubmed-meshheading:16323556-Child,
pubmed-meshheading:16323556-Chondrodysplasia Punctata,
pubmed-meshheading:16323556-Chromosomes, Human, X,
pubmed-meshheading:16323556-Female,
pubmed-meshheading:16323556-Gene Deletion,
pubmed-meshheading:16323556-Genetic Linkage,
pubmed-meshheading:16323556-Humans,
pubmed-meshheading:16323556-Ichthyosis,
pubmed-meshheading:16323556-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16323556-Kallmann Syndrome,
pubmed-meshheading:16323556-Male
|
| pubmed:year |
2005
|
| pubmed:articleTitle |
Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
|
| pubmed:affiliation |
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC. houjw741@cgmh.org.tw
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|