Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Human genetics - 1 Apr 2010

Rosenfeld Jill A, Ballif Blake C, Martin Donna M, Aylsworth Arthur S, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa G

Abstract excerpt

Holoprosencephaly (HPE) is the most common developmental forebrain anomaly in humans. Both environmental and genetic factors have been identified to play a role in the HPE phenotype. Previous studies of the genetic bases of HPE have taken a phenotype-first approach by examining groups of patients with HPE for specific mutations or deletions in known or candidate HPE genes. In this study, we characterized the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 3
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblast Growth Factor 8

Share to Glycogen Synthase Kinase 3

Share to Glycogen Synthase Kinase 3 beta

Share to Haploinsufficiency

Share to Hedgehog Proteins

Share to Holoprosencephaly

Source

Identifiers

PMID: 20066439
DOI: 10.1007/s00439-009-0778-7

Genes

BMP4
CDC42
CDON
DISP1
FGF8
FOXA2
HHIP
LRP2
LSS
OTX2
SHH
SIX3
SMO
TGIF1
WIF1
ZIC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.PMID 20066439Read ↗

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Semantic proximity Read ↗

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in HoloprosencephalySemantic proximity Read ↗

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.Semantic proximity Read ↗

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.Semantic proximity Read ↗

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.Semantic proximity Read ↗

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Semantic proximity Read ↗

Holoprosencephaly: recommendations for diagnosis and management.Semantic proximity Read ↗

Holoprosencephaly-Polydactyly syndrome: in search of an etiology.Semantic proximity Read ↗

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and ManagementSemantic proximity Read ↗

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.Semantic proximity Read ↗

Mutations in holoprosencephaly.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.