Acquired uniparental disomy in chromosome 6p as a feature of relapse after T-cell replete haploidentical hematopoietic stem cell transplantation using cyclophosphamide tolerization
Sign Up to like & getrecommendations! Published in 2017 at "Bone Marrow Transplantation"
DOI: 10.1038/bmt.2016.324
Abstract: Acquired uniparental disomy in chromosome 6p as a feature of relapse after T-cell replete haploidentical hematopoietic stem cell transplantation using cyclophosphamide tolerization read more here.
Keywords: uniparental disomy; disomy chromosome; acquired uniparental; transplantation ... See more keywords
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking
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DOI: 10.1159/000477520
Abstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause… read more here.
Keywords: uniparental disomy; disomy chromosome; heteroupd isoupd; chromosome microarray ... See more keywords
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.977914
Abstract: Purpose: This study reports the clinical and genetic features of Brown-Vialetto-Van Laere syndrome (BVVL) type 2 in a case of uniparental disomy of chromosome 8 in mainland China and analyzes the genotype-phenotype correlation through a… read more here.
Keywords: uniparental disomy; genotype phenotype; disomy chromosome; analysis ... See more keywords