Clinical and genetic epidemiology of inherited renal disease in Newfoundland

Kidney International

Volumn 61, Issue 6, 2002, Pages 1925-1934

  Parfrey, Patrick S ^a   Davidson, William S ^a   Green, Jane S ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Autosomal dominant diseases; Autosomal recessive diseases; Canadian renal disease; Kinship study; Mendelian inherited disease; Molecular genetics

Indexed keywords

ALPORT SYNDROME; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CANADA; CYST; DISEASE PREDISPOSITION; DISEASE SEVERITY; FAMILIAL DISEASE; GENE FUNCTION; GENE ISOLATION; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; MOLECULAR GENETICS; OXALOSIS 1; PEDIGREE; POPULATION RESEARCH; PREECLAMPSIA; PRIORITY JOURNAL; PROGNOSIS; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW; RISK FACTOR; SYMPTOMATOLOGY; UROLITHIASIS; VON HIPPEL LINDAU DISEASE;

EID: 0036098875     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2002.00305.x     Document Type: Article

References (46)

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12. Differences in normal and renal vascular responses between normotensive patients with autosomal dominant polycystic kidney disease and non-affected family members
13. A spectrum of mutations in the polycystic kidney disease 2 (PKD2) gene from eight Canadian kindreds
14. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
15. Somatic mutations of PKD1 in ADPKD2 cystic tissue suggest possible pathogenic effect of trans-heterozygous mutations
16. Bilineal inheritance and transheterozygotes in autosomal dominant polycystic kidney disease
17. Von Hippel-Lindau disease in a Newfoundland kindred
18. Defining the clinical phenotype of Von Hippel-Lindau disease. Experience with a large Newfoundland family
19. Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel-Lindau disease
20. Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus
21. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype
22. Phenotypic expression in Von Hippel-Lindau disease: Correlations with germline VHL gene mutations
23. Charcot-Marie-Tooth disease and nephropathy in a mother and daughter with a review of the literature
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26. Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome)
27. The spectrum of renal disease in Bardet-Biedl syndrome
28. The importance of renal impairment in the natural history of Bardet-Biedl syndrome
29. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
30. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
31. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
32. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
33. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus
34. A founder effect in the Newfoundland population reduces the Bardet-Biedl syndrome I (BBSI) interval to 1 CM
35. A Canadian family with Bardet-Biedl syndrome reduces the critical region of BBS (3p) and presents with a variable phenotype
36. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
37. Mutations in MKKS cause obesity, retinal dystrophy, and renal malformations associated with Bardet-Biedl syndrome
38. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
39. Genetic and mutational analysis of a large multi-ethnic Bardet-Biedl cohort reveals a minor involvement of BBS6 and delineates the intervals of other loci
40. Renal transplantation in primary hyperoxaluria/oxalosis: A report of two cases
41. Urolithiasis due to 2, 8 dihydroxyadenine in an adult
42. Missense mutation in the adenine phosphoribosyl transerase gene causing 2, 8 dihydroxyade-nine urolithiasis
43. The familial risk of preeclampsia in Newfoundland: A population based study
44. Genetic effects on the liability of developing preeclampsia and gestational hypertension