Familial phenotype differences in PKD1

Kidney International

Volumn 56, Issue 1, 1999, Pages 34-40

  Hateboer, Nick ^a   Lazarou, Lazarus P ^b   Williams, Andrew J ^b   Holmans, Peter ^b   Ravine, David ^b  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b NONE

Author keywords

Gene mutations; Heredity; Hernia; Hypertension; Kidney; Polycystic kidney disease

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; HAPLOTYPE; HERNIA; HUMAN; HYPERTENSION; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL MODEL;

EID: 0033041901     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1999.00541.x     Document Type: Article

References (11)

1. GABOW PA, JOHNSON AM, KAEHNY WD, KIMBERLING WJ, LEZOTTE DC, DULEY IT, JONES RH: Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease. Kidney Int 41:1311-1319, 1992
2. GABOW PA: Autosomal dominant polycystic kidney disease. N Engl J Med 329:332-342, 1993
3. EUROPEAN POLYCYSTIC KIDNEY DISEASE CONSORTIUM: The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894, 1994
4. MOCHIZUKI T, WU G, HAYASHI T, XENOPHONTOS SL, VELDHUISEN B, SARIS JJ, REYNOLDS DM, CAI Y, GABOW PA, PIERIDES A, KIMBERLING WJ, BREUNING MH, DELTAS CC, PETERS DJM, SOMLO S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272:1339-1342, 1996
5. BOGDANOVA N, DWORNICZAK B, DRAGOVA D, TODOROV V, DIMITRAKOV D, KALINOV K, HALLMAYER J, HORST J, KALAYDJIEVA L: Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 95:645-650, 1995
6. DAOUST MC, REYNOLDS DM, BICHET DG, SOMLO S: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736, 1995
7. DE ALMEIDA S, DE ALMEIDA E, PETERS D, PINTO RJ, TÁVORA I, LAVINHA J, BREUNING M, PRATA MM: Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88, 1995
8. PETERS DJM, SANDKUYL LA: Genetic heterogeneity of polycystic kidney disease in Europe, in Contributions in Nephrology: Polycystic Kidney Disease (vol 97), edited by BREUNING MH, DEVOTO M, ROMEO G, Basel, Karger, 1992, pp 128-139
9. PARFREY PS, BEAR JC, MORGAN J, CRAMER BC, MCMANAMON PJ, GAULT MH, CHURCHILL DN, SINGH M, HEWITT R, SOMLO S, REEDERS ST: The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323:1085-1090, 1990
10. RAVINE D, WALKER RG, GIBSON RN, FORREST SM, RICHARDS RI, FRIEND K, SHEFFIELD LJ, KINCAID-SMITH P, DANKS DM: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340:1330-1333, 1992
11. HATEBOER N, VAN DIJK MA, BOGDANOVA N, COTO E, SAGGAR-MALIK AK, SAN MILLAN JL, TORRA R, BREUNING M, RAVINE D, for the EUROPEAN PKD1-PKD2 STUDY GROUP: Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353:103-107, 1999