Prader-Willi Syndrome

Known as: Prader Labhart Willi Syndrome, Syndrome, Prader-Willi, Labhart Willi Prader Fanconi Syndrome 
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the… (More)
National Institutes of Health

Papers overview

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Highly Cited
2002
Highly Cited
2002
Prader-Willi syndrome (PWS) is a genetic disorder occurring in 1 of 10,000-16,000 live births and is characterized by excessive… (More)
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Review
2001
Review
2001
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes (PWS and AS) represents a paradigm for… (More)
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Highly Cited
1999
Highly Cited
1999
Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families… (More)
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Highly Cited
1998
Highly Cited
1998
Imprinting in the 15q11–q13 region involves an ‘imprinting centre’ (IC), mapping in part to the promoter and first exon of SNRPN… (More)
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Review
1998
Review
1998
Imprinted genes are marked in the germline and retain molecular memory of their parental origin, resulting in allelic expression… (More)
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Review
1997
Review
1997
Dysfunction of various hypothalamic systems may be the basis of a number of symptoms in Prader-Willi syndrome. The often abnormal… (More)
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Highly Cited
1997
Highly Cited
1997
Although some genetic, mental retardation syndromes have well-described behavioral features, comparative studies have not yet… (More)
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Highly Cited
1997
Highly Cited
1997
Human chromosome 15q11-q13 contains genes that are imprinted and expressed from only one parental allele. Prader-Willi syndrome… (More)
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Highly Cited
1995
Highly Cited
1995
A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but… (More)
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Highly Cited
1993
Highly Cited
1993
The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in… (More)
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