Literature DB >> 1982450

Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.

E R Maher1, E Bentley, J R Yates, D Barton, A Jennings, I W Fellows, M A Ponder, B A Ponder, C Benjamin, R Harris.   

Abstract

Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.

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Year:  1990        PMID: 1982450     DOI: 10.1016/0022-510x(90)90008-b

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  11 in total

1.  Coexistence between renal cell cancer and Hodgkin's lymphoma: a rare coincidence.

Authors:  Victor H Jimenez
Journal:  BMC Urol       Date:  2006-03-20       Impact factor: 2.264

2.  A genetic register for von Hippel-Lindau disease.

Authors:  I R Maddock; A Moran; E R Maher; M D Teare; A Norman; S J Payne; R Whitehouse; C Dodd; M Lavin; N Hartley; M Super; D G Evans
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

3.  Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p.

Authors:  S C Szymanski; H Hummerich; F Latif; M I Lerman; G Röhrborn; E Schröder
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

4.  Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours.

Authors:  P A Crossey; K Foster; F M Richards; M E Phipps; F Latif; K Tory; M H Jones; E Bentley; R Kumar; M I Lerman
Journal:  Hum Genet       Date:  1994-01       Impact factor: 4.132

5.  Von Hippel-Lindau disease: a genetic study.

Authors:  E R Maher; L Iselius; J R Yates; M Littler; C Benjamin; R Harris; J Sampson; A Williams; M A Ferguson-Smith; N Morton
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

6.  Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.

Authors:  F M Richards; E R Maher; F Latif; M E Phipps; K Tory; M Lush; P A Crossey; B Oostra; P Enblad; K H Gustavson
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

7.  von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis.

Authors:  M Yao; F Latif; M L Orcutt; I Kuzmin; T Stackhouse; F W Zhou; K Tory; F M Duh; F Richards; E Maher
Journal:  Hum Genet       Date:  1993-12       Impact factor: 4.132

Review 8.  Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?

Authors:  Brian J Siroky; Maria F Czyzyk-Krzeska; John J Bissler
Journal:  Nat Clin Pract Nephrol       Date:  2009-03

9.  Pheochromocytoma associated with von Hippel-lindau disease in a Pakistani family.

Authors:  Imran K Jalbani; Syed Muhammad Nazim; Farhat Abbas
Journal:  Urol Ann       Date:  2015 Jan-Mar

10.  Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell carcinoma.

Authors:  Wen-Chung Wang; Mei-Hua Tsou; Hui-Ju Chen; Wei-Fang Hsu; Yen-Chein Lai
Journal:  BMC Res Notes       Date:  2014-09-12
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