| pubmed-article:8388169 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8388169 | lifeskim:mentions | umls-concept:C0242614 | lld:lifeskim |
| pubmed-article:8388169 | lifeskim:mentions | umls-concept:C0949628 | lld:lifeskim |
| pubmed-article:8388169 | lifeskim:mentions | umls-concept:C0032897 | lld:lifeskim |
| pubmed-article:8388169 | lifeskim:mentions | umls-concept:C1552617 | lld:lifeskim |
| pubmed-article:8388169 | lifeskim:mentions | umls-concept:C0282443 | lld:lifeskim |
| pubmed-article:8388169 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:8388169 | pubmed:dateCreated | 1993-6-17 | lld:pubmed |
| pubmed-article:8388169 | pubmed:abstractText | Although Angelman (AS) and Prader-Willi (PWS) syndromes are human genetic disorders with distinctly different developmental and neurobehavioural phenotypes, they both have abnormalities in inheritance of chromosome 15q11-q13. Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11-q13. Normal development requires a genetic contribution for this genetic region from both a male and a female parent. The dependence on parental origin implies that genes in human 15q11-q13 have distinct functions depending upon epigenetic, parent-of-origin differences, known as genomic imprinting. Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype-genotype correlations using candidate genes and mouse models, in particular for hypopigmentation. | lld:pubmed |
| pubmed-article:8388169 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8388169 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8388169 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8388169 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8388169 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8388169 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:8388169 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:8388169 | pubmed:author | pubmed-author:NichollsR DRD | lld:pubmed |
| pubmed-article:8388169 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8388169 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:8388169 | pubmed:volume | 46 | lld:pubmed |
| pubmed-article:8388169 | pubmed:geneSymbol | GABRB3 | lld:pubmed |
| pubmed-article:8388169 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8388169 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8388169 | pubmed:pagination | 16-25 | lld:pubmed |
| pubmed-article:8388169 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:8388169 | pubmed:meshHeading | pubmed-meshheading:8388169-... | lld:pubmed |
| pubmed-article:8388169 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:8388169 | pubmed:articleTitle | Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. | lld:pubmed |
| pubmed-article:8388169 | pubmed:affiliation | Department of Neuroscience, University of Florida College of Medicine, Gainesville 32610. | lld:pubmed |
| pubmed-article:8388169 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8388169 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:8388169 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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