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

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

American journal of medical genetics. Part A - 1 Oct 2013

Harrison Steven M, Campbell Ian M, Keays Melise, Granberg Candace F, Villanueva Carlos, Tannin Grace, Zinn Andrew R, Castrillon Diego H, Shaw Chad A, Stankiewicz Pawel, Baker Linda A

Abstract excerpt

The NR5A1 gene encodes for steroidogenic factor 1, a nuclear receptor that regulates proper adrenal and gonadal development and function. Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakpoints
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 9

Share to Disorder of Sex Development, 46,XY

Share to DNA Copy Number Variations

Share to Infant, Newborn

Share to Primary Ovarian Insufficiency

Share to Steroidogenic Factor 1

Source

Open in PubMed Open full text

Identifiers

PMID: 23918653
DOI: 10.1002/ajmg.a.36084
PMCID: PMC3788034

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23918653-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.PMID 23918653Read ↗

[Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant].Semantic proximity Read ↗

Expanding the phenotype of copy number variations involving NR0B1 (DAX1).Semantic proximity Read ↗

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 VariantSemantic proximity Read ↗

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual DevelopmentSemantic proximity Read ↗

Exome sequencing for the diagnosis of 46,XY disorders of sex development.Semantic proximity Read ↗

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Semantic proximity Read ↗

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.Semantic proximity Read ↗

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal DysgenesisSemantic proximity Read ↗

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.Semantic proximity Read ↗

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.Semantic proximity Read ↗

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.Semantic proximity Read ↗

Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.Semantic proximity Read ↗

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