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 for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1.

Animal reproduction science - 1 Dec 2020

Nowacka-Woszuk Joanna, Szczerbal Izabela, Stachowiak Monika, Dzimira Stanislaw, Nizanski Wojciech, Biezynski Janusz, Nowak Tomasz, Gogulski Maciej, Switonski Marek

Abstract excerpt

Disorders of sex development (DSD) are important causes of infertility and sterility, and are risk factors for gonadal carcinogenesis. Many DSDs are caused by genetic factors, mainly sex chromosome abnormalities or mutations of genes involved in sexual development, as well as structural variants (SVs) - large deletions, duplications, and insertions, if these overlap genes involved in sex development. The aim of...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Disorders of Sex Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dog Diseases

Share to Gene Expression Regulation

Share to Genome

Share to Sex Chromosome Aberrations

Share to Steroidogenic Factor 1

Source

Identifiers

PMID: 33128907
DOI: 10.1016/j.anireprosci.2020.106632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1.PMID 33128907Read ↗

Recent findings on the genetics of disorders of sex development.Semantic proximity Read ↗

Non-coding variation in disorders of sex development.Semantic proximity Read ↗

Sex Reversal in a 47,XXY Patient due to a Novel Mutation of NR5A1 Gene: A Case ReportSemantic proximity Read ↗

Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical FeaturesSemantic proximity Read ↗

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?Semantic proximity Read ↗

[Clinical and genetic features of pedigrees with NR5A1 related disorders of sex development].Semantic 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 ↗

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.Semantic proximity Read ↗

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.Semantic proximity Read ↗

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Semantic proximity Read ↗

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.Semantic proximity Read ↗

Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development.Semantic proximity Read ↗

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