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

Analysis of genotype-phenotype correlations in human holoprosencephaly.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2010

Solomon Benjamin D, Mercier Sandra, Vélez Jorge I, Pineda-Alvarez Daniel E, Wyllie Adrian, Zhou Nan, Dubourg Christèle, David Veronique, Odent Sylvie, Roessler Erich, Muenke Maximilian

Abstract excerpt

Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients with mutations in genes associated with non-chromosomal, non-syndromic HPE have been described, with detailed descriptions available in over 300. Comprehensive clinical analysis of these individuals allows ex...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hedgehog Proteins

Share to Holoprosencephaly

Share to Nuclear Proteins

Share to Phenotype

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 20104608
DOI: 10.1002/ajmg.c.30240
PMCID: PMC2815217

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20104608-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of genotype-phenotype correlations in human holoprosencephaly.PMID 20104608Read ↗

Holoprosencephaly in the genomics era.Semantic proximity Read ↗

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.Semantic proximity Read ↗

Molecular testing in holoprosencephaly.Semantic proximity Read ↗

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

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

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

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

Pathogenesis of holoprosencephaly.Semantic proximity Read ↗

Syndromes associated with holoprosencephaly.Semantic proximity Read ↗

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

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.Semantic proximity Read ↗

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

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