Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

HOLOPROSENCEPHALY 3

Known as: HLP3, HPE3 
 
National Institutes of Health

Related topics

Related topics

4 relations

Broader (1)

Holoprosencephaly
SHH wt AlleleSHH, ALA226THRSHH, TRP128TER

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
Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and… Expand
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
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… Expand
Highly Cited
1997
Highly Cited
1997
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
Abstract Holoprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain… Expand
  • figure 1
1997
1997
Isolation, characterisation, and chromosomal localisation of the mouse and human vasoactive intestinal peptide receptor type 2 genes
Vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase activating polypeptide (PACAP) have been implicated in a wide… Expand
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… Expand
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… Expand
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… Expand
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… Expand
Highly Cited
1994
Highly Cited
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… Expand
  • figure 1
  • table 1
  • table 2
  • table 3
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE