Pallister-Hall syndrome

Known as: Hypothalamic Hamartoblastoma Syndromes, Syndrome, Pallister-Hall, Syndrome, Hypothalamic Hamartoblastoma 
A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA… (More)
National Institutes of Health

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Topic mentions per year

1951-2018
05010019512017

Papers overview

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Highly Cited
2007
Highly Cited
2007
PURPOSE To evaluate the impact of dry eye syndrome (DES) on vision-associated quality of life. DESIGN Cross-sectional study… (More)
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Highly Cited
2007
Highly Cited
2007
Pitt-Hopkins syndrome (PHS) is a rare syndromic encephalopathy characterized by daily bouts of hyperventilation and a facial… (More)
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Highly Cited
2005
Highly Cited
2005
Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall… (More)
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Highly Cited
2005
Highly Cited
2005
C-reactive protein (CRP) is a well-documented marker of atherosclerotic cardiovascular disease risk. We resequenced CRP to… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations in the GLI3 gene have been identified in several human malformation syndromes. One of these autosomal dominant… (More)
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Highly Cited
2001
Highly Cited
2001
Several prospective epidemiologic studies from the United States and Europe have demonstrated that high-sensitivity C-reactive… (More)
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Highly Cited
1997
Highly Cited
1997
Pallister-Hall syndrome (PHS, M146510) was first described in 1980 in six newborns. It is a pleiotropic disorder of human… (More)
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1995
1995
The Pallister-Hall syndrome (PHS) was initially described as the congenital hypothalamic 'hamartoblastoma' syndrome in 1980… (More)
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Highly Cited
1993
Highly Cited
1993
Prostaglandin endoperoxide synthase (PHS) catalyzes the committed step in the biosynthesis of prostaglandins and thromboxane. We… (More)
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1992
1992
We report 3 cases of Pallister-Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb… (More)
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