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Volumn 44, Issue 4, 2004, Pages 611-617

Medullary cystic kidney disease type 1 in a large Native-American kindred

Author keywords

haplotype analysis; Medullary cystic kidney disease (MCKD); transplantation

Indexed keywords

ADULT; AGED; AMERICAN INDIAN; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; FEMALE; GENE LOCUS; GENETIC LINKAGE; GOUT; HAPLOTYPE; HEMODIALYSIS; HUMAN; HYPERTENSION; KIDNEY CYST; MAJOR CLINICAL STUDY; MALE; MEDULLARY SPONGE KIDNEY; ONSET AGE; SALT LOSING NEPHRITIS; SYMPTOMATOLOGY;

EID: 4544280182     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2004.06.027     Document Type: Article
Times cited : (29)

References (20)
  • 1
    • 0014984851 scopus 로고
    • Evolution of clinical signs in adult-onset cystic disease of the renal medulla
    • K.D.J. Gardner Evolution of clinical signs in adult-onset cystic disease of the renal medulla Ann Intern Med 74 1971 47 54
    • (1971) Ann Intern Med , vol.74 , pp. 47-54
    • Gardner, K.D.J.1
  • 3
    • 0031953640 scopus 로고    scopus 로고
    • Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease
    • K. Christodoulou, M. Tsingis, C. Stavrou Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease Hum Mol Genet 7 1998 905 911
    • (1998) Hum Mol Genet , vol.7 , pp. 905-911
    • Christodoulou, K.1    Tsingis, M.2    Stavrou, C.3
  • 4
    • 0033358592 scopus 로고    scopus 로고
    • Identification of a new locus for medullary cystic disease, on chromosome 16p12
    • F. Scolari, D. Puzzer, A. Amoroso Identification of a new locus for medullary cystic disease, on chromosome 16p12 Am J Hum Genet 64 1999 1655 1660
    • (1999) Am J Hum Genet , vol.64 , pp. 1655-1660
    • Scolari, F.1    Puzzer, D.2    Amoroso, A.3
  • 5
    • 0036914069 scopus 로고    scopus 로고
    • Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
    • T.C. Hart, M.C. Gorry, P.S. Hart Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy J Med Genet 39 2002 882 892
    • (2002) J Med Genet , vol.39 , pp. 882-892
    • Hart, T.C.1    Gorry, M.C.2    Hart, P.S.3
  • 6
    • 0033848676 scopus 로고    scopus 로고
    • Molecular genetics of nephronophthisis and medullary cystic kidney disease
    • F. Hildebrandt, E. Otto Molecular genetics of nephronophthisis and medullary cystic kidney disease J Am Soc Nephrol 11 2000 1753 1761
    • (2000) J Am Soc Nephrol , vol.11 , pp. 1753-1761
    • Hildebrandt, F.1    Otto, E.2
  • 10
    • 0035868530 scopus 로고    scopus 로고
    • Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region
    • A. Fuchshuber, S. Kroiss, S. Karle Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region Genomics 72 2001 278 284
    • (2001) Genomics , vol.72 , pp. 278-284
    • Fuchshuber, A.1    Kroiss, S.2    Karle, S.3
  • 11
    • 0021344005 scopus 로고
    • Easy calculations of LOD scores and genetic risks on small computers
    • G.M. Lathrop, J.M. Lalouel Easy calculations of LOD scores and genetic risks on small computers Am J Hum Genet 36 1984 460 465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 12
    • 0033735942 scopus 로고    scopus 로고
    • Normal ranges for packed cell volume and hemoglobin concentration in adults
    • V.F. Fairbanks, A. Tefferi Normal ranges for packed cell volume and hemoglobin concentration in adults Eur J Haematol 65 2000 285 296
    • (2000) Eur J Haematol , vol.65 , pp. 285-296
    • Fairbanks, V.F.1    Tefferi, A.2
  • 14
    • 12444304213 scopus 로고    scopus 로고
    • Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene
    • A.J. Bleyer, A.S. Woodard, Z. Shihabi Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene Kidney Int 64 2003 36 42
    • (2003) Kidney Int , vol.64 , pp. 36-42
    • Bleyer, A.J.1    Woodard, A.S.2    Shihabi, Z.3
  • 15
    • 18544388555 scopus 로고    scopus 로고
    • Autosomal dominant medullary cystic kidney type 1: Clinical and molecular findings in six large Cypriot families
    • C. Stavrou, M. Koptides, C. Tombazos Autosomal dominant medullary cystic kidney type 1 Clinical and molecular findings in six large Cypriot families Kidney Int 62 2002 1385 1394
    • (2002) Kidney Int , vol.62 , pp. 1385-1394
    • Stavrou, C.1    Koptides, M.2    Tombazos, C.3
  • 16
    • 10744226387 scopus 로고    scopus 로고
    • A cluster of mutations in the UMOD gene causes familial juvenile hy-peruricemic nephropathy with abnormal expression of uromodulin
    • K. Dahan, O. Devuyst, M. Smaers A cluster of mutations in the UMOD gene causes familial juvenile hy-peruricemic nephropathy with abnormal expression of uromodulin J Am Soc Nephrol 14 2003 2883 2893
    • (2003) J Am Soc Nephrol , vol.14 , pp. 2883-2893
    • Dahan, K.1    Devuyst, O.2    Smaers, M.3
  • 17
    • 0346752171 scopus 로고    scopus 로고
    • Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics
    • L. Rampoldi, G. Caridi, D. Santon Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics Hum Mol Genet 12 2003 3369 3384
    • (2003) Hum Mol Genet , vol.12 , pp. 3369-3384
    • Rampoldi, L.1    Caridi, G.2    Santon, D.3
  • 18
    • 0035869098 scopus 로고    scopus 로고
    • Clinical and genetic characterization of an autosomal dominant nephropathy
    • R. Parvari, A. Shnaider, A. Basok Clinical and genetic characterization of an autosomal dominant nephropathy Am J Med Genet 99 2001 204 209
    • (2001) Am J Med Genet , vol.99 , pp. 204-209
    • Parvari, R.1    Shnaider, A.2    Basok, A.3
  • 19
    • 0025095857 scopus 로고
    • The diagnosis and prognosis of autosomal dominant polycystic kidney disease
    • P.S. Parfrey, J.C. Bear, J. Morgan The diagnosis and prognosis of autosomal dominant polycystic kidney disease N Engl J Med 323 1990 1085 1090
    • (1990) N Engl J Med , vol.323 , pp. 1085-1090
    • Parfrey, P.S.1    Bear, J.C.2    Morgan, J.3
  • 20
    • 12444278573 scopus 로고    scopus 로고
    • Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing
    • M.T.F. Wolf, S.M. Karle, S. Schwarz Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing Kidney Int 64 2003 788 792
    • (2003) Kidney Int , vol.64 , pp. 788-792
    • Wolf, M.T.F.1    Karle, S.M.2    Schwarz, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.