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Volumn 26, Issue 4, 2006, Pages 392-393

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy [11]

Author keywords

[No Author keywords available]

Indexed keywords

FIBROCYSTIN; MICROSATELLITE DNA;

EID: 33646044679     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1420     Document Type: Letter
Times cited : (2)

References (11)
  • 1
    • 12244300887 scopus 로고    scopus 로고
    • Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    • Bergmann C, Senderek J, Sedlacek B, et al. 2003. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 14(1): 76-89.
    • (2003) J Am Soc Nephrol , vol.14 , Issue.1 , pp. 76-89
    • Bergmann, C.1    Senderek, J.2    Sedlacek, B.3
  • 2
    • 2342588823 scopus 로고    scopus 로고
    • PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Senderek J, Küpper F, et al. 2004a. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 23: 453-463.
    • (2004) Hum Mutat , vol.23 , pp. 453-463
    • Bergmann, C.1    Senderek, J.2    Küpper, F.3
  • 3
    • 2342544210 scopus 로고    scopus 로고
    • PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Senderek J, Schneider F, et al. 2004b. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 23(5): 487-495.
    • (2004) Hum Mutat , vol.23 , Issue.5 , pp. 487-495
    • Bergmann, C.1    Senderek, J.2    Schneider, F.3
  • 4
    • 20144375384 scopus 로고    scopus 로고
    • Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Senderek J, Windelen E, et al. APN (Arbeitsgemeinschaft fur Padiatrische Nephrologie). 2005. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 67(3): 829-848.
    • (2005) Kidney Int , vol.67 , Issue.3 , pp. 829-848
    • Bergmann, C.1    Senderek, J.2    Windelen, E.3
  • 5
    • 0042844709 scopus 로고    scopus 로고
    • Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
    • Furu L, Onuchic LF, Gharavi A, et al. 2003. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol 14(8): 2004-2014.
    • (2003) J Am Soc Nephrol , vol.14 , Issue.8 , pp. 2004-2014
    • Furu, L.1    Onuchic, L.F.2    Gharavi, A.3
  • 7
    • 27944445032 scopus 로고    scopus 로고
    • Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)
    • Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJM. 2005. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet 118: 185-206.
    • (2005) Hum Genet , vol.118 , pp. 185-206
    • Losekoot, M.1    Haarloo, C.2    Ruivenkamp, C.3    White, S.J.4    Breuning, M.H.5    Djm, P.6
  • 8
    • 0036509712 scopus 로고    scopus 로고
    • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    • Ward CJ, Hogan MC, Rossetti S, et al. 2002. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30: 259-269.
    • (2002) Nat Genet , vol.30 , pp. 259-269
    • Ward, C.J.1    Hogan, M.C.2    Rossetti, S.3
  • 9
    • 0028991408 scopus 로고
    • Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester
    • Wisser J, Hebisch G, Froster U, et al. 1995. Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester. Prenat Diagn 15(9): 868-871.
    • (1995) Prenat Diagn , vol.15 , Issue.9 , pp. 868-871
    • Wisser, J.1    Hebisch, G.2    Froster, U.3
  • 10
    • 0028282550 scopus 로고
    • Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
    • Zerres K, Mücher G, Bachner L, et al. 1994. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7: 429-432.
    • (1994) Nat Genet , vol.7 , pp. 429-432
    • Zerres, K.1    Mücher, G.2    Bachner, L.3
  • 11
    • 3242705200 scopus 로고    scopus 로고
    • New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
    • Zerres K, Senderek J, Rudnik-Schöneborn S. 2004. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet 66: 53-57.
    • (2004) Clin Genet , vol.66 , pp. 53-57
    • Zerres, K.1    Senderek, J.2    Rudnik-Schöneborn, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.