FAQ

HOLOPROSENCEPHALY 3

Known as: HLP3, HPE3 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1994-2005
02419942005

Related topics

Related topics

2 relations

Broader (1)

Holoprosencephaly
SHH wt Allele

Related mentions per year

Related mentions per year

1963-2018
1960198020002020
HOLOPROSENCEPHALY 3
Holoprosencephaly
SHH wt Allele

Papers overview

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Review
2005
Review
2005
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and… (More)
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Review
1998
Review
1998
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal… (More)
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1998
1998
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q.
The holoprosencephaly (HPE) sequence is a malformation complex with abnormal midline cleavage of the embryonic forebrain. HPE is… (More)
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1997
1997
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
Holoprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and midface… (More)
  • figure 1
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Highly Cited
1996
Highly Cited
1996
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic… (More)
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Highly Cited
1996
Highly Cited
1996
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and… (More)
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1996
1996
Currarino triad with a terminal deletion 7q35-->qter.
We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad… (More)
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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.
The neuropeptides vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase activating polypeptide (PACAP) have been… (More)
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1994
1994
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance… (More)
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