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

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

3 Feb 2018

Abstract excerpt

Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes ( WNT4 and HNF1B ) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant...

Read the complete abstract on PubMed

Topics

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

Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29434669
DOI: 10.1186/s13039-018-0359-3

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

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasiaPMID 29434669Read ↗

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.Semantic proximity Read ↗

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Semantic proximity Read ↗

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSemantic proximity Read ↗

Genome sequencing and transcriptome profiling in twins discordant for Mayer-Rokitansky-Küster-Hauser syndromeSemantic proximity Read ↗

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.Semantic proximity Read ↗

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.Semantic proximity Read ↗

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mappingSemantic proximity Read ↗

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic ApproachesSemantic proximity Read ↗

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndromeSemantic proximity Read ↗

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndromeSemantic proximity Read ↗

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsSemantic proximity Read ↗

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implicationsSemantic proximity Read ↗

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