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

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

European journal of medical genetics - 1 Jan 2000

Bergman Jorieke E H, de Wijs Ilse, Jongmans Marjolijn C J, Admiraal Ronald J, Hoefsloot Lies H, van Ravenswaaij-Arts Conny M A

Abstract excerpt

CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Mutations in this gene are found in 60-70% of patients suspected of having CHARGE syndrome. However, if only typical CHARGE patients are taken into account, mutations in the CHD7 gene are found in over 90% of cases. The remaining 10% might be caused by hitherto undetected alterations of the CHD7 gene, including whole...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Gene Deletion

Share to Infant

Share to Infant, Newborn

Share to Syndrome

Source

Identifiers

PMID: 18472328
DOI: 10.1016/j.ejmg.2008.03.003

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.PMID 18472328Read ↗

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.Semantic proximity Read ↗

Mutations in the CHD7 gene: the experience of a commercial laboratory.Semantic proximity Read ↗

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.Semantic proximity Read ↗

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

Gene symbol: CHD7. Disease: CHARGE syndrome.Semantic proximity Read ↗

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeSemantic proximity Read ↗

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.Semantic proximity Read ↗

CHARGE syndrome and CHD7 gene mutation.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.Semantic proximity Read ↗

Phenotypic spectrum of neonatal CHARGE syndrome.Semantic proximity Read ↗

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