Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease-Reference-Cited by-同舟云学术

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Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease

Published:2019-09-18 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Hong Baoan,Ma Kaifang,Zhou Jingcheng,Zhang Jiufeng,Wang Jiangyi,Liu Shengjie,Zhang Zhongyuan,Cai Lin,Zhang Ning,Gong Kan

Funder

National Natural Science Foundation of China

Capital Health Research and Development of Special

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference37 articles.

1. Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene;Bradley;Am. J. Med. Genet.,1999

2. Neurologic manifestations of von Hippel–Lindau disease;Butman;JAMA,2008

3. Von Hippel–Lindau disease;Chittiboina;Handb. Clin. Neurol.,2015

4. Von Hippel–Lindau syndrome;Chou;Front. Horm. Res.,2013

5. Germline mutations in the von Hippel–Lindau gene in Italian patients;Ciotti;Eur. J. Med. Genet.,2009

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1. Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma;Genes;2024-09-11

2. Genetics, Pathophysiology, and Current Challenges in Von Hippel–Lindau Disease Therapeutics;Diagnostics;2024-08-29

3. The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis;BMC Ophthalmology;2024-08-13

4. Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort;iScience;2024-07

5. Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients;Egyptian Journal of Medical Human Genetics;2024-03-20

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