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

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

European journal of human genetics : EJHG - 1 Feb 2010

Bergman Jorieke E H, Bosman Erika A, van Ravenswaaij-Arts Conny M A, Steel Karen P

Abstract excerpt

CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear anomalies often associated with deafness. It is caused by heterozygous mutations in the CHD7 gene and shows a highly variable phenotype. Anosmia and hypogonadotropic hypogonadism occur in the majority of the CHARGE patients,...

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 Breeding
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypothalamus

Share to Mice, Inbred C3H

Share to Olfaction Disorders

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 19809474
DOI: 10.1038/ejhg.2009.158
PMCID: PMC2987182

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

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.PMID 19809474Read ↗

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndromeSemantic proximity Read ↗

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.Semantic proximity Read ↗

Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.Semantic proximity Read ↗

Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.Semantic proximity Read ↗

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.Semantic proximity Read ↗

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.Semantic proximity Read ↗

Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependentSemantic proximity Read ↗

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.Semantic proximity Read ↗

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.Semantic proximity Read ↗

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.Semantic proximity Read ↗

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.Semantic proximity Read ↗

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.Semantic proximity Read ↗

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