Uniparental disomy

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Pathogenesis and Consequences of Uniparental Disomy in CancerHowever, the discovery of uniparental disomy (UPD), also referred to as copy-neutral LOH, ... 6q, B cell lymphomas, 8% (FL), 3.1% (DLBCL), 10.3% (MALT) ... tw | twA novel method for detecting uniparental disomy from trio genotypes ...2013年12月13日 · Uniparental disomy (UPD) is a defect of inheritance in which both chromosomal homologs, or segments of homologs, in an individual's genome ... tw | twUniparental disomy in cancer - Cell Press2009年2月26日 · Uniparental disomy (UPD) results when both copies of a chromosome pair ... of UPD regions in rectal carcinoma, pancreatic cancer, t-FL, ...Complex and segmental uniparental disomy (UPD) - Journal of ...RESULTS The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous ... tw | twComplex and Segmental Uniparental Disomy (UPD) - Journal of ...2008年6月4日 · chromosome, one case with maternal UPD and an isochromosome 8 ... 28 Berend SA, Feldman GL, McGaskill Ch, Czarnecki P, Van Dyke DL, ...American College of Medical Genetics Statement on Diagnostic ...2001年5月1日 · Uniparental disomy (UPD) is the abnormal situation in which both members of a chromosome pair are inherited from one parent, and the other ...Uniparental disomy determined by whole‐exome sequencing in a ...2017年4月5日 · Abstract Background The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, ...Pathogenesis and Consequences of Uniparental Disomy in Cancer2011年6月15日 · We have prepared a review on uniparental disomy (UPD), ... CMML, chronic myelomonocytic leukemia; FL, follicular lymphoma; BCC, ...Sickle cell disease resulting from uniparental disomy in a child who ...We describe here the first reported case of conversion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and ...Mosaic genome-wide maternal isodiploidy: an extreme form of ...2017年10月13日 · Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders.