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

Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.

Genes - 11 Sept 2024

Gao Liqin, Zhang Feng, Hejtmancik J Fielding, Jiao Xiaodong, Jia Liyun, Peng Xiaoyan, Ma Kai, Li Qian

Abstract excerpt

Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex-polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel-Lindal (VHL) gene. For...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to China
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Hemangioblastoma

Share to Retinal Neoplasms

Share to von Hippel-Lindau Disease

Share to Von Hippel-Lindau Tumor Suppressor Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 39336783
DOI: 10.3390/genes15091192
PMCID: PMC11431690

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

Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.PMID 39336783Read ↗

Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease.Semantic proximity Read ↗

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.Semantic proximity Read ↗

Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.Semantic proximity Read ↗

The spectrum of germline VHL variants in Iranian patients with Retinal Capillary Hemangioblastoma and genotype-phenotype analysisSemantic proximity Read ↗

Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.Semantic proximity Read ↗

Von hippel-lindau disease: a genetic and clinical review.Semantic proximity Read ↗

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.Semantic proximity Read ↗

Neuro-ophthalmology of von Hippel-Lindau.Semantic proximity Read ↗

Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.Semantic proximity Read ↗

Familial and genetic researches on three Chinese families with von Hippel-Lindau disease.Semantic proximity Read ↗

A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?Semantic proximity Read ↗

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.Semantic proximity Read ↗

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