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

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

Clinical genetics - 1 Sept 2017

Ohnesorg T, van den Bergen J A, Belluoccio D, Shankara-Narayana N, Kean A-M, Vasilaras A, Ewans L, Ayers K L, Sinclair A H

Abstract excerpt

A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to Gene Duplication
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Karyotype

Share to Organ Specificity

Share to Regulatory Sequences, Nucleic Acid

Share to Sexual Development

Share to SOX9 Transcription Factor

Source

Identifiers

PMID: 28317102
DOI: 10.1111/cge.12976

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.PMID 28317102Read ↗

Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)Semantic proximity Read ↗

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9Semantic proximity Read ↗

A SOX9 duplication and familial 46,XX developmental testicular disorder.Semantic proximity Read ↗

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

De novo 12;17 translocation upstream of <i>SOX9</i> resulting in 46,XX testicular disorder of sex developmentSemantic proximity Read ↗

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentSemantic proximity Read ↗

Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and DiagnosisSemantic proximity Read ↗

SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicismSemantic proximity Read ↗

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literatureSemantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

[Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication].Semantic proximity Read ↗

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Semantic proximity Read ↗

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