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Holoprosencephaly

Known as: HPEC, HPE, FAMILIAL, Holoprosencephaly (HPE) 
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and… 
National Institutes of Health

Related topics

Related topics

34 relations

Narrower (17)

Alobar HoloprosencephalyDysgnathia complexGenoa syndromeHOLOPROSENCEPHALY 2 (disorder)
ArhinencephalyCerebrumCongenital anomaly of brainCongenital neurologic anomalies

Broader (1)

Congenital disease of brain

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Holoprosencephaly and holoprosencephaly‐like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
Holoprosencephaly (HPE) is genetically heterogeneous. Variable phenotypic manifestations within families with normal and affected… 
Highly Cited
2006
Highly Cited
2006
Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation.
Review
2005
Review
2005
epto-Optic Dysplasia omplex: A eterogeneous alformation yndrome
epto-optic dysplasia is defined by a variable combiation of dysgenesis of midline brain structures includng optic nerve… 
Highly Cited
2004
Highly Cited
2004
Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly*
Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH signaling have been associated with… 
Review
1998
Review
1998
Disorders of cholesterol biosynthesis
Only four of over 30 possible defects of cholesterol biosynthesis have been described. Mevalonic aciduria due to mevalonate… 
Review
1997
Review
1997
The role of sonic hedgehog in vertebrate development.
Highly Cited
1993
Highly Cited
1993
Physical mapping of the holoprosencephaly critical region on chromosome 7q36
Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE… 
Highly Cited
1991
Highly Cited
1991
Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol.
Previous studies in rodents have indicated that the facial changes of fetal alcohol syndrome (FAS) closely resemble those of a… 
Highly Cited
1987
Highly Cited
1987
Treatment of the west syndrome with high-dose pyridoxal phosphate
Highly Cited
1979
Highly Cited
1979
Episodic arthritis in children with cystic fibrosis.
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