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HOLOPROSENCEPHALY 3
Known as:
HLP3
, HPE3
Â
Â
National Institutes of Health
Topic mentions per year
Topic mentions per year
1994-2005
0
2
4
1994
2005
Related topics
Related topics
2 relations
Broader (1)
Holoprosencephaly
SHH wt Allele
Related mentions per year
Related mentions per year
1963-2018
1960
1980
2000
2020
HOLOPROSENCEPHALY 3
Holoprosencephaly
SHH wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
B A Fernández
,
Jacqueline Siegel-Bartelt
,
J-A S Herbrick
,
Ichiko Teshima
,
Stefanie Scherer
Clinical genetics
2005
Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and…Â
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Review
1998
Review
1998
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
Suzanna Gerarda Maria Frints
,
Eric F. P. M. Schoenmakers
,
Elien Smeets
,
P. Petit
,
J. P. Fryns
American journal of medical genetics
1998
We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal…Â
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1998
1998
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q.
Gillian Vance
,
Cheryl A Nickerson
,
+5 authors
C. G. Palmer
American journal of medical genetics
1998
The holoprosencephaly (HPE) sequence is a malformation complex with abnormal midline cleavage of the embryonic forebrain. HPE is…Â
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1997
1997
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
E A Rössler
,
Deeann E. Ward
,
+6 authors
Maximilian Muenke
Human Genetics
1997
Holoprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and midface…Â
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Highly Cited
1996
Highly Cited
1996
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
E A Rössler
,
Elena Belloni
,
+5 authors
Maximilian Muenke
Nature Genetics
1996
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic…Â
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Highly Cited
1996
Highly Cited
1996
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
Elena Belloni
,
Maximilian Muenke
,
+13 authors
Stefanie Scherer
Nature Genetics
1996
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and…Â
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1996
1996
Currarino triad with a terminal deletion 7q35-->qter.
Mitsuo Masuno
,
Kazunori Imaizumi
,
+5 authors
Yoko Kuroki
Journal of medical genetics
1996
We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad…Â
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1996
1996
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype.
Mark T Mackay
,
Judy A. Fantes
,
+7 authors
Anthony J. Harmar
Genomics
1996
The neuropeptides vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase activating polypeptide (PACAP) have been…Â
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1994
1994
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
Maximilian Muenke
,
Fiorella Gurrieri
,
+7 authors
Mark S. Lubinsky
Proceedings of the National Academy of Sciences…
1994
Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance…Â
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