Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations-Reference-Cited by-同舟云学术

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Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations

Published:2010-12-28 Issue:1 Volume:155 Page:168-173
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nielsen Sarah M.,Rubinstein Wendy S.,Thull Darcy L.,Armstrong Michaele J.,Feingold Eleanor,Stang Michael T.,Gnarra James R.,Carty Sally E.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33760/fullpdf

Reference27 articles.

1. Molecular characterization and ophthalmic investigation of a large family with type 2A von Hippel-Lindau disease;Allen;Arch Ophthalmol,2001

2. Pheochromocytomas and paragangliomas in von Hipple-Lindau disease: a role for laparoscopic and cortical-sparing surgery;Baghai;Arch Surg,2002

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

4. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: Evidence of a founder effect;Brauch;Hum Genet,1995

5. Pheochromocytoma: The expanding genetic differential diagnosis;Bryant;J Natl Cancer Inst,2003

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata;eLife;2022-08-30

3. Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack;Endocrine Connections;2021-11-01

4. Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings;Familial Cancer;2021-04-20

5. Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas;Clinical Endocrinology;2021-03-28

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