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Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterised by the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. The gene for VHL disease has been mapped to chromosome 3p25-p26 and flanking markers identified. We have investigated the usefulness of currently available DNA markers for the presymptomatic diagnosis of VHL disease. In the first part of this investigation, genetic linkage data from two previously published studies were updated and reanalysed to provide accurate estimates of sex specific recombination fractions and to confirm that there is no evidence of locus heterogeneity. In the second part of this study, 14 families containing 23 asymptomatic subjects at 50% prior risk of VHL disease were investigated with closely linked DNA markers (RAF1, D3S18, D3S732). Seventeen subjects were informative with one or more markers, six of whom were informative at markers flanking the VHL disease gene. By combining age related and DNA based risk information the carrier risk for 11 subjects was reduced to < 2%.
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
January 1995,
European journal of human genetics : EJHG,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
January 2001,
Contributions to nephrology,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
June 2000,
Journal of medical genetics,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
January 2018,
Advances in experimental medicine and biology,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
April 1993,
Bratislavske lekarske listy,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
June 2003,
Lancet (London, England),
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
November 2005,
Hereditary cancer in clinical practice,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
November 1997,
Medicine,
E R Maher, and
E Bentley, and
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F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
March 2000,
Harefuah,
E R Maher, and
E Bentley, and
S J Payne, and
F Latif, and
F M Richards, and
M Chiano, and
S Hosoe, and
J R Yates, and
M Linehan, and
D E Barton
January 2009,
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti,
