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Volumn 34, Issue 7, 1997, Pages 587-589

A family with a milder form of adult dominant polycystic Kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes

Author keywords

Dominant; PKD1; PKD2; Polycystic kidney disease

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 16P; CHROMOSOME 4Q; CLINICAL ARTICLE; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENETIC LINKAGE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; PRIORITY JOURNAL;

EID: 0030789466     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.7.587     Document Type: Article
Times cited : (57)

References (18)
  • 1
    • 0026654117 scopus 로고
    • Autosomal dominant polycystic kidney disease: New information for genetic counseling
    • Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC. Autosomal dominant polycystic kidney disease: new information for genetic counseling. Am J Med Genet 1991;43:548-53.
    • (1991) Am J Med Genet , vol.43 , pp. 548-553
    • Bear, J.C.1    Parfrey, P.S.2    Morgan, J.M.3    Martin, C.J.4    Cramer, B.C.5
  • 2
    • 0025723450 scopus 로고
    • Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
    • Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, López-Larrea C. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 1991;338:1484-7.
    • (1991) Lancet , vol.338 , pp. 1484-1487
    • Harris, P.C.1    Thomas, S.2    Ratcliffe, P.J.3    Breuning, M.H.4    Coto, E.5    López-Larrea, C.6
  • 3
    • 0028297233 scopus 로고
    • Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population
    • Peral B, Ward CJ, San Millan JL, et al. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 1994;54:899-908.
    • (1994) Am J Hum Genet , vol.54 , pp. 899-908
    • Peral, B.1    Ward, C.J.2    San Millan, J.L.3
  • 4
    • 0028278058 scopus 로고
    • The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
    • The 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 1994;77:881-94.
    • (1994) Cell , vol.77 , pp. 881-894
  • 5
    • 0029069583 scopus 로고
    • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple domains
    • Hughes J, Ward CJ, Peral B, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple domains. Nat Genet 1995;10:151-60.
    • (1995) Nat Genet , vol.10 , pp. 151-160
    • Hughes, J.1    Ward, C.J.2    Peral, B.3
  • 6
    • 0029655664 scopus 로고    scopus 로고
    • Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
    • Peral B, San Millán JL, Ong ACM, et al. Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 1996;58:86-96.
    • (1996) Am J Hum Genet , vol.58 , pp. 86-96
    • Peral, B.1    San Millán, J.L.2    Ong, A.C.M.3
  • 7
    • 0029149637 scopus 로고
    • A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
    • Turco A, Rossetti S, Bresin E, et al. A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 1995;4:1331-5.
    • (1995) Hum Mol Genet , vol.4 , pp. 1331-1335
    • Turco, A.1    Rossetti, S.2    Bresin, E.3
  • 8
    • 0027452094 scopus 로고
    • Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
    • Peters DJM, Spruit L, Saris JJ, et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 1993;5:359-62.
    • (1993) Nat Genet , vol.5 , pp. 359-362
    • Peters, D.J.M.1    Spruit, L.2    Saris, J.J.3
  • 9
    • 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 C, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 1993;18:467-72.
    • (1993) Genomics , vol.18 , pp. 467-472
    • Kimberling, W.J.1    Kumar, S.2    Gabow, P.A.3    Kenyon, J.B.4    Connolly, C.5    Somlo, S.6
  • 10
    • 15844385078 scopus 로고    scopus 로고
    • PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
    • Mochizuki T, Wu G, Hayashi T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272:1339-42.
    • (1996) Science , vol.272 , pp. 1339-1342
    • Mochizuki, T.1    Wu, G.2    Hayashi, T.3
  • 11
    • 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 1995;25:733-6.
    • (1995) Genomics , vol.25 , pp. 733-736
    • Daoust, M.C.1    Reynolds, D.M.2    Bichet, D.G.3    Somlo, S.4
  • 12
    • 0029042394 scopus 로고
    • Autosomal dominant polycystic kidney disease: Evidence for a third locus in a Portuguese family
    • de Almeida S, de Almeida E, Peters D, et al. Autosomal dominant polycystic kidney disease: evidence for a third locus in a Portuguese family. Hum Genet 1995;96:83-8.
    • (1995) Hum Genet , vol.96 , pp. 83-88
    • De Almeida, S.1    De Almeida, E.2    Peters, D.3
  • 13
    • 0029987326 scopus 로고    scopus 로고
    • An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene
    • Turco AE, Clementi M, Rossetti S, Tenconi R, Pignatti PR An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. Am J Kidney Dis 1996;28:759-61.
    • (1996) Am J Kidney Dis , vol.28 , pp. 759-761
    • Turco, A.E.1    Clementi, M.2    Rossetti, S.3    Tenconi, R.4    Pignatti, P.R.5
  • 14
    • 0029033563 scopus 로고
    • Genetic heterogeneity of polycystic kidney disease in Bulgaria
    • Bogdanova N, Dworniczak B, Dragova D, et al. Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 1995;95:645-50.
    • (1995) Hum Genet , vol.95 , pp. 645-650
    • Bogdanova, N.1    Dworniczak, B.2    Dragova, D.3
  • 15
    • 12644319661 scopus 로고
    • Autosomal dominant polycystic kidney disease: Ultrasonographic detection and prognosis of PKD1 and PKD2 forms
    • Bear JC, Parfrey PS, Morgan J, et al. Autosomal dominant polycystic kidney disease: ultrasonographic detection and prognosis of PKD1 and PKD2 forms. Am J Med Genet 1989;45:39-43.
    • (1989) Am J Med Genet , vol.45 , pp. 39-43
    • Bear, J.C.1    Parfrey, P.S.2    Morgan, J.3
  • 16
    • 0026575757 scopus 로고
    • Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1)
    • Coto E, Aguado S, Alvarez J, Menéndez Diaz MJ, López-Larrea C. Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1). J Med Genet 1992;29:243-6.
    • (1992) J Med Genet , vol.29 , pp. 243-246
    • Coto, E.1    Aguado, S.2    Alvarez, J.3    Menéndez Diaz, M.J.4    López-Larrea, C.5
  • 17
    • 0029064555 scopus 로고
    • DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: Evaluation of clinical heterogeneity between both forms of the disease
    • Coto E, Sanz de Castro S, Aguado S, et al. DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease. J Med Genet 1995;32:442-5.
    • (1995) J Med Genet , vol.32 , pp. 442-445
    • Coto, E.1    De Sanz Castro, S.2    Aguado, S.3
  • 18
    • 0029861825 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene
    • Rossetti S, Bresin E, Restagno G, et al. Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene. Am J Med Genet 1996;65:155-9.
    • (1996) Am J Med Genet , vol.65 , pp. 155-159
    • Rossetti, S.1    Bresin, E.2    Restagno, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.