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Uniparental Disomy

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Recent Publications on Uniparental Disomy:

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DNA copy-number abnormalities do not occur in infant ALL with t(4;11)/MLL-AF4.
The pathogenesis of infant acute lymphoblastic leukemia (ALL) is still not...
13th November, 2009
[1] Centro Ricerca Tettamanti, Clinica Pediatrica Univ. Milano-Bicocca, Leukemia. 2009 Nov 12.
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Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies.
PURPOSE: Acquired somatic uniparental disomy (UPD) is commonly observed in...
11th November, 2009
Departmenst of Translational Hematology and Oncology Research and J Clin Oncol. 2009 Nov 9.
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Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
Over a 10-year period blood samples were collected from 57 individuals...
31st October, 2009
Program in Genetics and Genome Biology, The Hospital for Sick Children, Am J Med Genet A. 2009 Nov;149A(11):2415-23.
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JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival.
A common JAK2 germline haplotype (46/1) has been associated with JAK2V617F...
23rd October, 2009
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Leukemia. 2009 Oct 22.
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Genomic imprinting disorders in humans: a mini-review.
Mammals inherit two complete sets of chromosomes, one from the father and...
22nd October, 2009
Departments of Psychiatry & Behavioral Sciences and Pediatrics, Kansas J Assist Reprod Genet. 2009 Oct 21.
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Uniparental Disomy Patents:

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US Patent No.Title
7611870 Methods for identifying cancer risk
5856089 Method for the detection of chromosome structural abnormalities by in situ hybridization to fixed tissue
5955269 Methods of screening foods for nutraceuticals
6235474 Methods and kits for diagnosing and determination of the predisposition for diseases
6303294 Methods of detecting genetic deletions and mutations associated with Digeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate and probes useful therefore

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