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

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.

Panminerva medica - 1 Dec 2010

Bellone S, De Rienzo F, Prodam F, Savastio S, Busti A, Genoni G, Aimaretti G, Bona G

Abstract excerpt

Holoprosencephaly (HPE) is a complex brain malformation caused by impaired or incomplete midline division of the prosencephalon. It's characterized by cerebral and facial anomalies of different levels of severity. Both genetic and environmental factors are known to cause HPE, but they cover only few cases. Genetic causes are responsible for about 20% of cases: they are chromosomal abnormalities and gene...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Counseling
Share to Genetic Predisposition to Disease

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

Share to Holoprosencephaly

Share to Patient Care Team

Share to Risk Factors

Share to Severity of Illness Index

Share to Translational Research, Biomedical

Share to Treatment Outcome

Source

Identifiers

PMID: 21183895

Genes

CRIPTO
GLI2
SHH
SIX3
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

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.PMID 21183895Read ↗

Holoprosencephaly.Semantic proximity Read ↗

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

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

Holoprosencephaly: the Maastricht experience.Semantic proximity Read ↗

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

Phenotypic and molecular variability of the holoprosencephalic spectrum.Semantic proximity Read ↗

Holoprosencephaly: clinical, anatomic, and molecular dimensions.Semantic proximity Read ↗

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Semantic proximity Read ↗

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

Holoprosencephaly in the genomics era.Semantic proximity Read ↗

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsSemantic 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 ↗

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