Mechanisms leading to uniparental disomy and their clinical ...
Uniparental disomy (UPD) refers to the situation in which both copies of a chromosome pair have originated from one parent. In humans, it can result in ...
http://www.ncbi.nlm.nih.gov/pubmed/10797485...
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Uniparental disomy - Glossary Entry - Genetics Home Reference
Uniparental disomy can result in an abnormal phenotype in some cases. ... What are genomic imprinting and uniparental disomy? Published: November 21, 2008 ...
http://ghr.nlm.nih.gov/glossary=uniparentaldisomy...
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Unusual Aspects of Inheritance: General Principles of Medical ...
Uniparental disomy may cause abnormal inheritance patterns. For example, if duplicates of the same chromosome (isodisomy) are present and carry an abnormal
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http://www.merck.com/mmpe/sec22/ch327/ch327e.html...
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What are genomic imprinting and uniparental disomy? - Genetics ...
14 Nov 2008 ... Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. ...
http://ghr.nlm.nih.gov/handbook/inheritance/updimprinting...
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Epigenetic detection of human chromosome 14 uniparental disomy.
Epigenetic detection of human chromosome 14 uniparental disomy. Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, ...
http://www.ncbi.nlm.nih.gov/pubmed/12815599...
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Identification of interstitial maternal uniparental disomy (UPD ...
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=17...
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Frequent occurrence of uniparental disomy in color ...
In conclusion, we demonstrate that uniparental disomy is frequent in CRC, and identify genomic alterations associated with TP53 inactivation and lymph node
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http://www.ncbi.nlm.nih.gov/pubmed/16774939?dopt=Abstract...
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Childrens Hospital of Pittsburgh - Uniparental Disomy: Prader ...
3 Feb 2008 ... Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from ...
http://www.chp.edu/CHP/P02159...
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Frequent occurrence of uniparental disomy in colorectal cancer.
The transcriptional analysis revealed an unchanged expression level in areas with intact copy number, including regions with uniparental disomy, ...
http://www.ncbi.nlm.nih.gov/pubmed/16774939...
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Leukemia - Abstract of article: Segmental uniparental disomy as a ...
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan ...
http://www.nature.com/leu/journal/v21/n11/abs/2404795a.html...
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