Results 141 to 150 of about 6,628 (168)

A case of paternal uniparental disomy for chromosome 11

Prenatal Diagnosis, 1995
AbstractWe report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation. Autopsy following intrauterine death also revealed aberrant intestinal rotation and hypospadias. Chromosome analysis of direct preparations from placental biopsy showed an abnormal 47,XY,+11 karyotype.
A, Webb, J, Beard, C, Wright, S, Robson, J, Wolstenholme, J, Goodship   +5 more
openaire   +2 more sources

Mechanisms leading to uniparental disomy and their clinical consequences

BioEssays, 2000
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 clinical conditions by producing either homozygosity for recessive mutations or aberrant patterns of imprinting.
openaire   +2 more sources

Uniparental disomy and gene localization

1991
To the Editor: Uniparental heterodisomy, mentioned as a possible cause of genetic imprinting in the recent review by Hall (1990), has recently been demonstrated to be one possible cause of the Prader-Willi syndrome (Nicholls et al. 1989) and of male-to-male transmission of hemophilie A (Vidaud et al. 1989).
openaire   +1 more source

Genomic Imprinting and Uniparental Disomy

1999
Genomic imprinting refers to the process of differential modification and expression of parental alleles; the parental origin of the allele dictates whether it is transcribed. It is an epigenetic form of gene regulation that allows expression of only one parental allele.
openaire   +1 more source

Uniparental Disomy

Pediatric Dermatology, 2005
Dawn H, Siegel, Anne, Slavotinek
openaire   +2 more sources

Hypophosphatasia due to uniparental disomy

Bone, 2015
Miroslava, Hancarova, Anna, Krepelova, Alena, Puchmajerova, Ondrej, Soucek, Darina, Prchalova, Zdenek, Sumnik, Zdenek, Sedlacek   +6 more
openaire   +2 more sources

Uniparental disomy with normal phenotype

The Lancet, 1992
B. Dwokniczak, B. Koppers, G. Kurlemann, W. Holzgreve, J. Horst, P. Miny   +5 more
openaire   +1 more source

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Genetics in Medicine, 2016
Miriam Elbracht, Elizabeth Bhoj, Nancy Spinner   +2 more
exaly  

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

Genetics in Medicine, 2020
Rolph Pfundt, Nicole De Leeuw, Christian Gilissen   +2 more
exaly  

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

Journal of Pediatrics, 2009
Mitsuhiro Kato, Jun Tohyama, Shinji Saitoh   +2 more
exaly