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Uniparental disomy of 13

Known as: Paternal uniparental disomy 13, Maternal uniparental disomy of chromosome 13, Uniparental disomy of chromosome 13 
National Institutes of Health

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Broader (2)

Chromosomes, Human, Pair 13Uniparental Disomy

Papers overview

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2018
2018
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6].
OBJECTIVE To report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6… 
2011
2011
The Lessons from Angelman Syndrome for Research and Management
Interest in monogenic disorders with epilepsy has provided significant insights into the pathophysiology of epilepsy. Among these… 
2011
2011
Consanguinity and inherited epilepsies
As a working defi nition, unions contracted between persons biologically related as second cousins or closer are categorized as… 
2006
2006
Prenatal diagnostic indicators of paternal uniparental disomy 14
To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal… 
2006
2006
Mother–child exclusion due to paternal uniparental disomy 6
In a mother-child pair, false exclusions in markers on chromosome 6 have been observed. The genetic incompatibilities have been… 
2003
2003
Effect of age on testicular germ cell apoptosis and sperm aneuploidy in MF-1 mice.
The spontaneous mutation rate in the male germ-line increases with age. The reason for this is unknown, but presumably involves… 
1998
1998
Confined placental mosaicism for trisomy 8 and intra‐uterine growth retardation
This report describes a case of apparent confined placental mosaicism for trisomy 8 in a pregnancy which produced a male infant… 
Review
1996
Review
1996
Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother
We present the phenotypic, cytogenetic and molecular findings in two dysmorphic and mentally retarded brothers with disomy Xq12… 
Review
1992
Review
1992
Beckwith-Wiedemann syndrome, tumourigenesis and imprinting
1990
1990
Angelman syndrome can result from uniparental paternal isodisomy
Abstract of paper presented at the 1990 Annual Meeting of the American Society of Human Genetics. Also available through PubMed… 
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