메뉴 건너뛰기




Volumn 14, Issue 1, 2003, Pages 76-89

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HAPLOTYPE; HUMAN; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; MALE; PRIORITY JOURNAL;

EID: 12244300887     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000039578.55705.6E     Document Type: Article
Times cited : (169)

References (35)
  • 1
    • 0002250323 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease: Clinical and genetic profiles
    • edited by Watson ML, Torres VE, Oxford, Oxford University Press
    • Guay-Woodford LM: Autosomal recessive polycystic kidney disease: Clinical and genetic profiles. In: Polycystic Kidney Disease, edited by Watson ML, Torres VE, Oxford, Oxford University Press, 1996, pp 237-266
    • (1996) Polycystic Kidney Disease , pp. 237-266
    • Guay-Woodford, L.M.1
  • 2
    • 0001652622 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender
    • Zerres K, Rudnik-Schoneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, Scharer K: Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender. Acta Paediatr 85: 437-445, 1996
    • (1996) Acta Paediatr , vol.85 , pp. 437-445
    • Zerres, K.1    Rudnik-Schoneborn, S.2    Deget, F.3    Holtkamp, U.4    Brodehl, J.5    Geisert, J.6    Scharer, K.7
  • 4
    • 0023950011 scopus 로고
    • Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis
    • Zerres K, Hansmann M, Mallmann R, Gembruch U: Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn Mar 8: 215-229, 1988
    • (1988) Prenat Diagn Mar , vol.8 , pp. 215-229
    • Zerres, K.1    Hansmann, M.2    Mallmann, R.3    Gembruch, U.4
  • 5
    • 0025311426 scopus 로고
    • Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease
    • Reuss A, Wladimiroff JW, Stewart PA, Niermeijer MF: Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol 16: 355-359, 1990
    • (1990) Ultrasound Med Biol , vol.16 , pp. 355-359
    • Reuss, A.1    Wladimiroff, J.W.2    Stewart, P.A.3    Niermeijer, M.F.4
  • 7
    • 0030957715 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors
    • Roy S, Dillon MJ, Trompeter RS, Barratt TM: Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors. Pediatr Nephrol 11: 302-306, 1997
    • (1997) Pediatr Nephrol , vol.11 , pp. 302-306
    • Roy, S.1    Dillon, M.J.2    Trompeter, R.S.3    Barratt, T.M.4
  • 11
    • 0035171012 scopus 로고    scopus 로고
    • The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease
    • Lager DJ, Qian Q, Bengal RJ, Ishibashi M, Torres VE: The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease. Kidney Int 59: 126-136, 2001
    • (2001) Kidney Int , vol.59 , pp. 126-136
    • Lager, D.J.1    Qian, Q.2    Bengal, R.J.3    Ishibashi, M.4    Torres, V.E.5
  • 12
    • 0035023554 scopus 로고    scopus 로고
    • Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis
    • Sanzen T, Harada K, Yasoshima M, Kawamura Y, Ishibashi M, Nakanuma Y: Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am J Pathol 158: 1605-1612, 2001
    • (2001) Am J Pathol , vol.158 , pp. 1605-1612
    • Sanzen, T.1    Harada, K.2    Yasoshima, M.3    Kawamura, Y.4    Ishibashi, M.5    Nakanuma, Y.6
  • 19
    • 0001290687 scopus 로고    scopus 로고
    • Domains in plexins: Links to integrins and transcription factors
    • Bork P, Doerks T, Springer TA, Snel B: Domains in plexins: Links to integrins and transcription factors. Trends Biochem Sci 24: 261-263, 1999
    • (1999) Trends Biochem Sci , vol.24 , pp. 261-263
    • Bork, P.1    Doerks, T.2    Springer, T.A.3    Snel, B.4
  • 21
  • 22
    • 0028931119 scopus 로고
    • Autosomal recessive polycystic kidney disease: Long- term sonographic findings in patients surviving the neonatal period
    • Blickman JG, Bramson RT, Herrin JT: Autosomal recessive polycystic kidney disease: Long- term sonographic findings in patients surviving the neonatal period. Am J Roentgenol 164: 1247-1250, 1995
    • (1995) Am J Roentgenol , vol.164 , pp. 1247-1250
    • Blickman, J.G.1    Bramson, R.T.2    Herrin, J.T.3
  • 23
    • 0012300378 scopus 로고    scopus 로고
    • Sonography of renal cystic disease and dysplasia in infants and children
    • edited by Brodehl J, Ehrich JHH, Berlin, Springer
    • Garel L: Sonography of renal cystic disease and dysplasia in infants and children. In: Pediatric Nephrology, edited by Brodehl J, Ehrich JHH, Berlin, Springer, 1998, pp 359-362
    • (1998) Pediatric Nephrology , pp. 359-362
    • Garel, L.1
  • 26
    • 0030954731 scopus 로고    scopus 로고
    • Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
    • Hayward C, Porteous ME, Brock DJ: Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations. Hum Mutat 10: 280-289, 1997
    • (1997) Hum Mutat , vol.10 , pp. 280-289
    • Hayward, C.1    Porteous, M.E.2    Brock, D.J.3
  • 30
    • 0029058140 scopus 로고
    • Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: A clinical comparison of 20 sibships
    • Deget F, Rudnik-Schoneborn S, Zerres K: Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: A clinical comparison of 20 sibships. Clin Genet 47: 248-253, 1995
    • (1995) Clin Genet , vol.47 , pp. 248-253
    • Deget, F.1    Rudnik-Schoneborn, S.2    Zerres, K.3
  • 31
    • 0034130222 scopus 로고    scopus 로고
    • Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model
    • Guay-Woodford LM, Wright CJ, Walz G, Churchill GA: Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model. J Am Soc Nephrol 11: 1253-1260, 2000
    • (2000) J Am Soc Nephrol , vol.11 , pp. 1253-1260
    • Guay-Woodford, L.M.1    Wright, C.J.2    Walz, G.3    Churchill, G.A.4
  • 32
    • 0346740257 scopus 로고    scopus 로고
    • Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype
    • Sommardahl C, Cottrell M, Wilkinson JE, Woychik RP, Johnson DK: Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype. Physiol Genomics 7: 127-134, 2001
    • (2001) Physiol Genomics , vol.7 , pp. 127-134
    • Sommardahl, C.1    Cottrell, M.2    Wilkinson, J.E.3    Woychik, R.P.4    Johnson, D.K.5
  • 33
    • 0036534129 scopus 로고    scopus 로고
    • Alternative splicing: Multiple control mechanisms and involvement in human disease
    • Caceres JF, Kornblihtt AR: Alternative splicing: Multiple control mechanisms and involvement in human disease. Trends Genet 18: 186-193, 2002
    • (2002) Trends Genet , vol.18 , pp. 186-193
    • Caceres, J.F.1    Kornblihtt, A.R.2
  • 34
    • 0036337915 scopus 로고    scopus 로고
    • A genomic view of alternative splicing
    • Modrek B, Lee C: A genomic view of alternative splicing. Nat Genet 30: 13-19, 2002
    • (2002) Nat Genet , vol.30 , pp. 13-19
    • Modrek, B.1    Lee, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.