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

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

26 Oct 2010

Abstract excerpt

Disorders of sexual development (DSD), ranging in severity from genital abnormalities to complete sex reversal, are among the most common human birth defects with incidence rates reaching almost 3%. Although causative alterations in key genes controlling gonad development have been identified, the majority of DSD cases remain unexplained. To improve the diagnosis, we screened 116 children born with idiopathic DSD...

Read the complete abstract on PubMed

Topics

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

Share to Prenatal Screening and Diagnostics
Share to Sexual Differentiation and Disorders
Share to Urological Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21048976
DOI: 10.1371/journal.pone.0015392

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual DevelopmentPMID 21048976Read ↗

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

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

The Role of Copy Number Variants in Disorders of Sex DevelopmentSemantic proximity Read ↗

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.Semantic proximity Read ↗

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variantsSemantic proximity Read ↗

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

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.Semantic proximity Read ↗

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)Semantic proximity Read ↗

Disorders of sex development: advances in genetic diagnosis and challenges in managementSemantic proximity Read ↗

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.Semantic proximity Read ↗

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

Monogenic Forms of DSD: An Update.Semantic proximity Read ↗

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