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

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.

American journal of human genetics - 7 Feb 2013

Amyere Mustapha, Aerts Virginie, Brouillard Pascal, McIntyre Brendan A S, Duhoux François P, Wassef Michel, Enjolras Odile, Mulliken John B, Devuyst Olivier, Antoine-Poirel Hélène, Boon Laurence M, Vikkula Miikka

Abstract excerpt

Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson's two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 1

Share to In Situ Hybridization, Fluorescence

Share to Polymorphism, Single Nucleotide

Share to RNA, Messenger

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 23375657
DOI: 10.1016/j.ajhg.2012.12.017
PMCID: PMC3567282

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 · 10 closest

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.PMID 23375657Read ↗

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").Semantic proximity Read ↗

Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Nonmalignant Lesions.Semantic proximity Read ↗

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.Semantic proximity Read ↗

Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> MutationSemantic proximity Read ↗

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.Semantic proximity Read ↗

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.Semantic proximity Read ↗

Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.Semantic proximity Read ↗

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.Semantic proximity Read ↗

Congenital plaque-type glomuvenous malformations presenting in childhood.Semantic proximity Read ↗

The Central Role of KNG1 Gene as a Genetic Determinant of Coagulation Pathway-Related Traits: Exploring Metaphenotypes.Semantic proximity Read ↗

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