Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

2015 ◽  
Vol 83 (1) ◽  
pp. 15-19 ◽  
Author(s):  
Nicholas Russell ◽  
Martin Delatycki ◽  
Mathis Grossmann
Keyword(s):  
Disease Gene ◽  
Unclassified Variant ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Molecular Analysis of the von Hippel-Lindau Disease Gene

2001 ◽  
pp. 193-216
Author(s):  
Allen Chernoff ◽  
Viera Kasparcova ◽  
W. Marston Linehan ◽  
Catherine A. Stolle
Keyword(s):  
Molecular Analysis ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Somatic mutations of the von Hippel-Lindau disease gene in renal carcinomas occurring in patients with long-term dialysis

2007 ◽  
Vol 22 (7) ◽  
pp. 2052-2055 ◽  
Author(s):  
H. Inoue ◽  
N. Nonomura ◽  
Y. Kojima ◽  
M. Shiba ◽  
D. Oka ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL)

1993 ◽  
Vol 2 (10) ◽  
pp. 1750-1750 ◽  
Author(s):  
F.M. Richards ◽  
F. Latif ◽  
M.I. Lerman ◽  
B. Zbar ◽  
E.R. Maher
Keyword(s):  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene

1993 ◽  
Vol 2 (8) ◽  
pp. 1177-1182 ◽  
Author(s):  
Wanguo Liu ◽  
Marie Plechockl ◽  
Viji Shridhar ◽  
Gregory Lyles ◽  
Zheng Song ◽  
...  
Keyword(s):  
Disease Gene ◽  
Yeast Artificial Chromosome ◽  
Artificial Chromosome ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Yac Contig
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