-transparent.png){kind=logo}
Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1.89/100,000 (1/53,000) persons with an estimated birth incidence of 2.73/100,000 (1/36,000) live births. Reproductive fitness was 0.83. Direct and indirect estimates of the mutation rate were 4.4 (95% CI 0.9 to 7.9) x 10(-6)/gene/generation and 2.32 x 10(-6)/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
February 1996,
Journal of medical genetics,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
January 1998,
Annales d'endocrinologie,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
May 2010,
Human mutation,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
June 1991,
Lancet (London, England),
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
February 1969,
Journal of the All-India Ophthalmological Society,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
November 2012,
Archivos de la Sociedad Espanola de Oftalmologia,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
January 2018,
Advances in experimental medicine and biology,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
April 1993,
Bratislavske lekarske listy,
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
June 2003,
Lancet (London, England),
E R Maher, and
L Iselius, and
J R Yates, and
M Littler, and
C Benjamin, and
R Harris, and
J Sampson, and
A Williams, and
M A Ferguson-Smith, and
N Morton
November 2005,
Hereditary cancer in clinical practice,
