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

Papers overview

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2013
2013
Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often… (More)
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2011
2011
Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ resistance to parathyroid hormone in the… (More)
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2008
2008
OBJECTIVE Congenital hyperinsulinism (CHI) may be due to diffuse or focal pancreatic disease. The diffuse form is associated with… (More)
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Highly Cited
2003
Highly Cited
2003
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature… (More)
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Highly Cited
2001
Highly Cited
2001
Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the alpha-subunit of the stimulatory G protein… (More)
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1997
1997
Uniparental isodisomy is defined as the inheritance of two copies of the same parental chromosome and can result in defects when… (More)
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1996
1996
Cytogenetic and molecular investigation of a boy with precocious puberty and motor developmental delay revealed a 45,XY,t(14q14q… (More)
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1993
1993
Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In… (More)
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1992
1992
Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location… (More)
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1990
1990
We identified an extremely rare condition, isolated complete deficiency of the fourth component of complement, in a child with… (More)
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