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Uniparental Isodisomy

Known as: Isodisomies, Uniparental, Uniparental Isodisomies 
The presence in a cell of a chromosome pair that is composed of duplicates of one parental chromosome.
National Institutes of Health

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Broader (1)

Uniparental Disomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
β-thalassemia major evolution from β-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15
β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases… 
2007
2007
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
Uniparental disomy (UPD) describes the inheritance of two homologous chromosomes from a single parent. Disease phenotypes… 
Review
2004
Review
2004
Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype
Chromosome 14 demonstrates imprinting with differing phenotypes for both maternal and paternal uniparental disomy (UPD). Although… 
2002
2002
Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus
An Erratum has been published for this article in Prenatal Diagnosis 22(11) 2002: 1056. 
1999
1999
Maternal uniparental isodisomy for chromosome 14 detected prenatally
Maternal uniparental disomy (UPD) for chromosome 14 (upd(14)mat) has been associated with a distinct phenotype. We describe the… 
1999
1999
Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome.
We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using… 
Highly Cited
1996
Highly Cited
1996
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).
Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant… 
Review
1995
Review
1995
Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing… 
1994
1994
Paternal uniparental isodisomy for human chromosome 20 and absence of external ears
Uniparental disomy can cause disease if the involved chromosomal region contains imprinted genes. Uniparental disomy for portions… 
Highly Cited
1991
Highly Cited
1991
Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms
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