Literature DB >> 8863170

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

F Chen1, L Slife, T Kishida, J Mulvihill, S E Tisherman, B Zbar.   

Abstract

A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.

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Year:  1996        PMID： 8863170      PMCID： PMC1050712          DOI： 10.1136/jmg.33.8.716

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED.

Authors:  K L MELMON; S W ROSEN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

Review 2.  Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.

Authors:  H P Neumann; O D Wiestler
Journal:  Lancet       Date:  1991-05-04       Impact factor: 79.321

3.  Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas.

Authors:  T Shuin; K Kondo; S Torigoe; T Kishida; Y Kubota; M Hosaka; Y Nagashima; H Kitamura; F Latif; B Zbar
Journal:  Cancer Res       Date:  1994-06-01       Impact factor: 12.701

4.  Identification of the von Hippel-Lindau disease tumor suppressor gene.

Authors:  F Latif; K Tory; J Gnarra; M Yao; F M Duh; M L Orcutt; T Stackhouse; I Kuzmin; W Modi; L Geil
Journal:  Science       Date:  1993-05-28       Impact factor: 47.728

5.  Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.

Authors:  H Brauch; T Kishida; D Glavac; F Chen; F Pausch; H Höfler; F Latif; M I Lerman; B Zbar; H P Neumann
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease?

Authors:  S E Tisherman; B G Tisherman; S A Tisherman; S Dunmire; G S Levey; J J Mulvihill
Journal:  Arch Intern Med       Date:  1993-11-22

7.  Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

Authors:  F Chen; T Kishida; M Yao; T Hustad; D Glavac; M Dean; J R Gnarra; M L Orcutt; F M Duh; G Glenn
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

8.  Mutations of the VHL tumour suppressor gene in renal carcinoma.

Authors:  J R Gnarra; K Tory; Y Weng; L Schmidt; M H Wei; H Li; F Latif; S Liu; F Chen; F M Duh
Journal:  Nat Genet       Date:  1994-05       Impact factor: 38.330

9.  Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

Authors:  P A Crossey; F M Richards; K Foster; J S Green; A Prowse; F Latif; M I Lerman; B Zbar; N A Affara; M A Ferguson-Smith
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

10.  Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.

Authors:  H Kanno; K Kondo; S Ito; I Yamamoto; S Fujii; S Torigoe; N Sakai; M Hosaka; T Shuin; M Yao
Journal:  Cancer Res       Date:  1994-09-15       Impact factor: 12.701
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  16 in total

Review 1.  The von Hippel-Lindau gene: turning discovery into therapy.

Authors:  Peter E Clark; Michael S Cookson
Journal:  Cancer       Date:  2008-10-01       Impact factor: 6.860

Review 2.  Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

Authors:  Lauren Fishbein; Katherine L Nathanson
Journal:  Cancer Genet       Date:  2012 Jan-Feb

3.  Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.

Authors:  F J Hes; S McKee; M J Taphoorn; P Rehal; R B van Der Luijt; R McMahon; J J van Der Smagt; D Dow; R A Zewald; J Whittaker; C J Lips; F MacDonald; P L Pearson; E R Maher
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

4.  Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes.

Authors:  E R Woodward; S C Clifford; D Astuti; N A Affara; E R Maher
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

5.  Adrenalectomy for familial pheochromocytoma in the laparoscopic era.

Authors:  L Michael Brunt; Terry C Lairmore; Gerard M Doherty; Mary A Quasebarth; Mary DeBenedetti; Jeffrey F Moley
Journal:  Ann Surg       Date:  2002-05       Impact factor: 12.969

Review 6.  Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1.

Authors:  Giuseppe Opocher; Pierantonio Conton; Francesca Schiavi; Beatrice Macino; Franco Mantero
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

7.  Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.

Authors:  Pradeep Mettu; Elvira Agrón; Sonia Samtani; Emily Y Chew; Wai T Wong
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-04-07       Impact factor: 4.799

8.  Surgical management of medulla oblongata hemangioblastomas in one institution: an analysis of 62 cases.

Authors:  Xuesong Liu; Yuekang Zhang; Xuhui Hui; Chao You; Fang Yuan; Wenjing Chen; Si Zhang
Journal:  Int J Clin Exp Med       Date:  2015-04-15

9.  Solid haemangioblastomas of the CNS: a review of 17 consecutive cases.

Authors:  Jens Rachinger; Rolf Buslei; Julian Prell; Christian Strauss
Journal:  Neurosurg Rev       Date:  2008-09-20       Impact factor: 3.042

10.  Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

Authors:  Valentina Bangiyeva; Ava Rosenbloom; Ashlynn E Alexander; Bella Isanova; Timothy Popko; Alan R Schoenfeld
Journal:  BMC Cancer       Date:  2009-07-14       Impact factor: 4.430
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