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Holoprosencephaly
Known as:
HPEC
, HPE, FAMILIAL
, Holoprosencephaly (HPE)
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Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and…
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National Institutes of Health
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Related topics
Related topics
34 relations
Narrower (17)
Alobar Holoprosencephaly
Dysgnathia complex
Genoa syndrome
HOLOPROSENCEPHALY 2 (disorder)
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Arhinencephaly
Cerebrum
Congenital anomaly of brain
Congenital neurologic anomalies
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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
L. Ribeiro
,
R. Quiezi
,
A. Nascimento
,
C. Bertolacini
,
A. Richieri‐Costa
American Journal of Medical Genetics. Part A
2010
Corpus ID: 25445281
Holoprosencephaly (HPE) is genetically heterogeneous. Variable phenotypic manifestations within families with normal and affected…
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Highly Cited
2006
Highly Cited
2006
Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation.
A. Papageorghiou
,
K. Avgidou
,
K. Spencer
,
B. Nix
,
K. Nicolaides
American Journal of Obstetrics and Gynecology
2006
Corpus ID: 12598214
Review
2005
Review
2005
epto-Optic Dysplasia omplex: A eterogeneous alformation yndrome
iero Pavone
,
P. Iannetti
,
uigi Manfré
,
artino Ruggieri
2005
Corpus ID: 6286110
epto-optic dysplasia is defined by a variable combiation of dysgenesis of midline brain structures includng optic nerve…
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Highly Cited
2004
Highly Cited
2004
Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly*
E. Traiffort
,
C. Dubourg
,
+5 authors
M. Ruat
Journal of Biological Chemistry
2004
Corpus ID: 32607178
Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH signaling have been associated with…
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Review
1998
Review
1998
Disorders of cholesterol biosynthesis
P. Clayton
Archives of Disease in Childhood
1998
Corpus ID: 1288612
Only four of over 30 possible defects of cholesterol biosynthesis have been described. Mevalonic aciduria due to mevalonate…
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Review
1997
Review
1997
The role of sonic hedgehog in vertebrate development.
M. Weed
,
S. Mundlos
,
B. Olsen
Matrix Biology
1997
Corpus ID: 11095802
Highly Cited
1993
Highly Cited
1993
Physical mapping of the holoprosencephaly critical region on chromosome 7q36
F. Gurrieri
,
B. Trask
,
+9 authors
M. Muenke
Nature Genetics
1993
Corpus ID: 9426612
Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE…
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Highly Cited
1991
Highly Cited
1991
Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol.
Joseph R. Siebert
,
S. Astley
,
S. Clarren
Teratology
1991
Corpus ID: 11120147
Previous studies in rodents have indicated that the facial changes of fetal alcohol syndrome (FAS) closely resemble those of a…
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Highly Cited
1987
Highly Cited
1987
Treatment of the west syndrome with high-dose pyridoxal phosphate
Y. Ohtsuka
,
M. Matsuda
,
T. Ogino
,
Katsuhiro Kobayashi
,
S. Ohtahara
Brain & development (Tokyo. )
1987
Corpus ID: 35575962
Highly Cited
1979
Highly Cited
1979
Episodic arthritis in children with cystic fibrosis.
A. Newman
,
B. Ansell
Jornal de Pediatria
1979
Corpus ID: 27975562
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