Results 121 to 130 of about 6,628 (168)

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I. [PDF]

Mol Genet Genomic Med
Yan L, Ding S, He Y, Fu B, Chen C, Li H.
europepmc   +1 more source

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting. [PDF]

Sci Rep
Li M, Hao N, Jiang Y, Xue H, Dai Y, Wang M, Bai J, Lv Y, Qi Q, Zhou X.   +9 more
europepmc   +1 more source

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review. [PDF]

Mol Cytogenet
Jiang Y, Xiao YX, Xiong JJ, Zhang VW, Dong C, Xu L, Liu F.   +6 more
europepmc   +1 more source

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Mosaicism and uniparental disomy in prenatal diagnosis

Trends in Molecular Medicine, 2015
Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination.
Thomas Eggermann, Dieter Kotzot, Lukas Soellner   +2 more
exaly   +3 more sources

Acquired Uniparental Disomy in Myeloproliferative Neoplasms

Hematology/Oncology Clinics of North America, 2012
The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several novel mutated genes in myeloproliferative neoplasms and related disorders.
Nicholas Cross, Joannah Score
exaly   +4 more sources

Uniparental paternal disomy in Angelman's syndrome

Lancet, The, 1991
Angelman's syndrome and Prader-Willi syndrome are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both are associated with deletions of chromosome 15q11-13, of maternal origin in Angelman's and paternal in Prader-Willi.
Jill Clayton-Smith, S Robb, A J Jeffreys   +2 more
exaly   +4 more sources

Uniparental disomy in the human blastocyst is exceedingly rare

Fertility and Sterility, 2014
To establish whether uniparental disomy (UPD) could represent an outcome of embryonic aneuploidy self-correction and its relevance to preimplantation genetic diagnosis, and to validate a method of UPD detection in limited quantities of cells and determine the frequency of UPD in a large sample size of human blastocysts.Retrospective observational ...
Nathan Treff, Rolph Pfundt
exaly   +4 more sources

Uniparental disomy in cancer

Trends in Molecular Medicine, 2009
Uniparental disomy (UPD) results when both copies of a chromosome pair originate from one parent. In humans, this might result in developmental disease or cancer due to either the production of homozygosity (caused by mutated or methylated genes or by microRNA sequences) or an aberrant pattern of imprinting.
Musaffe, Tuna, Sakari, Knuutila, Gordon B, Mills   +2 more
openaire   +2 more sources

Uniparental disomies 7 and 14

Best Practice & Research Clinical Endocrinology & Metabolism, 2011
Normally, one inherits one chromosome of each pair from one parent and the second chromosome from the other parent. Uniparental disomy (UPD) describes the inheritance of both homologues of a chromosome pair from the same parent. The biological basis of UPD syndromes is disturbed genomic imprinting.
Katrin, Hoffmann, Raoul, Heller
openaire   +2 more sources