Now showing items 1-8 of 8
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
(Springer-Verlag; IPNA, 2003-06)
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here ...
Risk perception and concern among brothers of men with prostate carcinoma
(Wiley Subscription Services, Inc., A Wiley Company, 2004-04-01)
BACKGROUND It is important for clinicians, researchers, and others who shape public health policy to understand the demographic correlates and psychologic factors that drive health behaviors, such as screening for early ...
The Relative Merits of Population-Based and Targeted Prevention Strategies
(Blackwell Publishing Inc, 2008-12)
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
(Springer-Verlag; IPNA, 2006-01)
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal ...
NPHS2 mutation associated with recurrence of proteinuria after transplantation
(Springer-Verlag; IPNA, 2004-05)
Mutations in the NPHS2 gene encoding podocin are associated with steroid-resistant nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental glomerulosclerosis (FSGS). It is unclear to what ...
Accounting for error due to misclassification of exposures in case–control studies of gene–environment interaction
(John Wiley & Sons, Ltd., 2008-07-10)
We consider analysis of data from an unmatched case–control study design with a binary genetic factor and a binary environmental exposure when both genetic and environmental exposures could be potentially misclassified. ...
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
(Springer-Verlag; IPNA, 2004-12)
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by recessive mutations in NPHS2 (podocin). ...
Familial aggregation of melanoma risks in a large population-based sample of melanoma cases
(Kluwer Academic Publishers; Springer Science+Business Media, 2004-11)
Objective Melanoma has been shown in numerous studies to be associated with sun exposure, and with host phenotypic factors of genetic origin. In this study we use information from a large series of incident cases of melanoma ...