Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families

2008 ◽  
Vol 134 (11) ◽  
pp. 1211-1218 ◽  
Author(s):  
Jin Zhang ◽  
Yiran Huang ◽  
Jiahua Pan ◽  
Dongming Liu ◽  
Lixin Zhou ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Chinese Families ◽  
Mainland Chinese ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease

2020 ◽  
Vol 243 ◽  
pp. 1-6
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Masood Jamil ◽  
Muhammad Aslam ◽  
Halah Abalkhail ◽  
Fouad Al-Dayel ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

1996 ◽  
Vol 8 (4) ◽  
pp. 348-357 ◽  
Author(s):  
Berton Zbar ◽  
Takeshi Kishida ◽  
Fan Chen ◽  
Laura Schmidt ◽  
Eamonn R. Maher ◽  
...  
Keyword(s):  
North America ◽  
Germline Mutations ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

A novel heterozygous mutation in exon 3 of VHL gene leading to Von Hippel-Lindau disease in a Turkish family

2019 ◽  
Author(s):  
Ozge Tasgin Yildirim ◽  
Ismail Yildiz ◽  
Fatih Horozoglu ◽  
Aysun Gonen ◽  
Cenk Murat Yazici ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Turkish Family ◽  
Von Hippel Lindau Disease

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel- Lindau disease

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 208-208 ◽  
Author(s):  
N. Kawahara ◽  
H. Kume ◽  
K. Ueki ◽  
K. Mishima ◽  
T. Sasaki ◽  
...  
Keyword(s):  
Gene Inactivation ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

2004 ◽  
Vol 7 (4) ◽  
pp. 403-406 ◽  
Author(s):  
Mana M. Parast ◽  
Grant Eudy ◽  
Kenneth W. Gow ◽  
Mahul Amin ◽  
Bahig Shehata
Keyword(s):  
Gene Mutation ◽  
Renal Carcinoma ◽  
Pediatric Population ◽  
Single Point ◽  
Single Point Mutation ◽  
Transcription Factor Gene ◽  
Unique Case ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.

Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas

2005 ◽  
Author(s):  
Hio Kang ◽  
Il-Jin Kim ◽  
Jae-Hyun Park ◽  
Yong Shin ◽  
Sang-Geun Jang ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Korean Patients ◽  
Von Hippel Lindau Disease

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing

1998 ◽  
Vol 11 (S1) ◽  
pp. S31-S33 ◽  
Author(s):  
Chunde Li ◽  
Günther Weber ◽  
Peter Ekman ◽  
Jacob Lagercrantz ◽  
Bo Johan Norlen ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Dna Sequencing ◽  
Tumor Suppressor Gene ◽  
Southern Blot ◽  
Genomic Dna ◽  
Germline Mutations ◽  
Suppressor Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Disease Tumor Suppressor Gene
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