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Volumn 28, Issue 5, 1996, Pages 759-761

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

Author keywords

Autosomal dominant polycystic kidney disease; genetic heterogeneity; PKD3 gene

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FAMILY STUDY; FEMALE; GENETIC LINKAGE; GENOTYPE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE;

EID: 0029987326     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0272-6386(96)90261-9     Document Type: Article
Times cited : (51)

References (25)
  • 1
    • 0027925829 scopus 로고
    • Autosomal dominant polycystic kidney disease
    • Gabow PA: Autosomal dominant polycystic kidney disease. N Engl J Med 329:332-342, 1993
    • (1993) N Engl J Med , vol.329 , pp. 332-342
    • Gabow, P.A.1
  • 5
    • 0028278058 scopus 로고
    • The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16
    • European Polycystic Kidney Disease Consortium: The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894, 1994
    • (1994) Cell , vol.77 , pp. 881-894
  • 6
    • 0028942745 scopus 로고
    • Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat
    • American PKD1 Consortium: Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 4:575-582, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 575-582
  • 7
    • 0029002967 scopus 로고
    • Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
    • International PKD Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81:289-298, 1995
    • (1995) Cell , vol.81 , pp. 289-298
  • 8
    • 0027767585 scopus 로고
    • Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
    • Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S: Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472, 1993
    • (1993) Genomics , vol.18 , pp. 467-472
    • Kimberling, W.J.1    Kumar, S.2    Gabow, P.A.3    Kenyon, J.B.4    Connolly, C.J.5    Somlo, S.6
  • 10
    • 0028932219 scopus 로고
    • Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
    • 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
    • (1995) Genomics , vol.25 , pp. 733-736
    • Daoust, M.C.1    Reynolds, D.M.2    Bichet, D.G.3    Somlo, S.4
  • 13
    • 0021324754 scopus 로고
    • Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling
    • Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH, Churchill DN: Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling. Am J Med Genet 18:45-53, 1984
    • (1984) Am J Med Genet , vol.18 , pp. 45-53
    • Bear, J.C.1    McManamon, P.2    Morgan, J.3    Payne, R.H.4    Lewis, H.5    Gault, M.H.6    Churchill, D.N.7
  • 15
    • 0029442833 scopus 로고
    • Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes
    • Turco AE, Rossetti S, Peissel B, Gammaro L, Maschio G, Pignatti PF: Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes. Contrib Nephrol 115:88-92, 1995
    • (1995) Contrib Nephrol , vol.115 , pp. 88-92
    • Turco, A.E.1    Rossetti, S.2    Peissel, B.3    Gammaro, L.4    Maschio, G.5    Pignatti, P.F.6
  • 16
    • 0026652095 scopus 로고
    • Isolation and characterization of (AC)n microsatellite genetic markers from human chromosome 16
    • Thompson AD, Shen Y, Holman K, Sutherland GR, Callen DF, Richards RI: Isolation and characterization of (AC)n microsatellite genetic markers from human chromosome 16. Genomics 13:402-408, 1992
    • (1992) Genomics , vol.13 , pp. 402-408
    • Thompson, A.D.1    Shen, Y.2    Holman, K.3    Sutherland, G.R.4    Callen, D.F.5    Richards, R.I.6
  • 17
    • 0025723450 scopus 로고
    • Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
    • Harris P, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, Lopez-Larrea C: Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338:1484-1487, 1991
    • (1991) Lancet , vol.338 , pp. 1484-1487
    • Harris, P.1    Thomas, S.2    Ratcliffe, P.J.3    Breuning, M.H.4    Coto, E.5    Lopez-Larrea, C.6
  • 21
    • 0028351429 scopus 로고
    • Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
    • Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM: Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343:824-827, 1994
    • (1994) Lancet , vol.343 , pp. 824-827
    • Ravine, D.1    Gibson, R.N.2    Walker, R.G.3    Sheffield, L.J.4    Kincaid-Smith, P.5    Danks, D.M.6
  • 22
    • 0028795019 scopus 로고
    • Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2
    • San Millan JL, Viribay M, Peral B, Martinez I, Weissenbach J, Moreno F: Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2. Am J Hum Genet 56:248-253, 1995
    • (1995) Am J Hum Genet , vol.56 , pp. 248-253
    • San Millan, J.L.1    Viribay, M.2    Peral, B.3    Martinez, I.4    Weissenbach, J.5    Moreno, F.6
  • 25
    • 0026085706 scopus 로고
    • Counselling under genetic heterogeneity: A practical approach
    • Narod S: Counselling under genetic heterogeneity: A practical approach. Clin Genet 39:125-131, 1991
    • (1991) Clin Genet , vol.39 , pp. 125-131
    • Narod, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.