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

A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.

Journal of medical genetics - 23 Oct 2024

Vocke Cathy D, Ricketts Christopher J, Pack Svetlana, Raffeld Mark, Hewitt Stephen, Lebensohn Alexandra P, O'Brien Lidenys, Gautam Rabindra, Reynolds Krista, Schmidt Laura S, Choo Kristin, Kenigsberg Alex, Gurram Sandeep, Chew Emily Y, Nilubol Naris, Chittaboina Prashant, Merino Maria J, Ball Mark W, Linehan W Marston

Abstract excerpt

von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the VHL tumour suppressor gene. VHL patients are at increased risk of developing multiple benign and malignant tumours. Current CLIA-based genetic tests demonstrate a very high detection rate of germline VHL variants in patients with clinical manifestations of VHL. In this...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Inversion
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to VHL gene

Share to Genetic Predisposition to Disease

Share to Germ-Line Mutation

Share to Pedigree

Share to von Hippel-Lindau Disease

Share to Von Hippel-Lindau Tumor Suppressor Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 39317422
DOI: 10.1136/jmg-2024-110202
PMCID: PMC11503160

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.PMID 39317422Read ↗

Novel gene mutation in von Hippel-Lindau disease - a report of two cases.Semantic proximity Read ↗

Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome.Semantic proximity Read ↗

Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.Semantic proximity Read ↗

Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.Semantic proximity Read ↗

von Hippel-Lindau Disease: Review of Genetics and Imaging.Semantic proximity Read ↗

Von Hippel-Lindau: Current Evidence in Diagnosis, Treatment, and Nursing Implications.Semantic proximity Read ↗

Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.Semantic proximity Read ↗

Von Hippel-Lindau syndrome. A pleomorphic condition.Semantic proximity Read ↗

Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.Semantic proximity Read ↗

Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.Semantic proximity Read ↗

Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.Semantic proximity Read ↗

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