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Volumn 69, Issue 9, 2002, Pages 815-818

Alagille syndrome

Author keywords

Alagille syndrome; Jagged1

Indexed keywords

ALAGILLE SYNDROME; CHILD; DISEASE COURSE; FEMALE; HUMAN; INCIDENCE; INDIA; INFANT; MALE; NEWBORN; PRESCHOOL CHILD; REVIEW; RISK FACTOR; SURVIVAL RATE;

EID: 0036730403     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02723697     Document Type: Conference Paper
Times cited : (16)

References (28)
  • 1
    • 0023148932 scopus 로고
    • Syndrome paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia) : Review of 80 cases
    • Alagille D, Estrada A, Hadchouel M et al. Syndrome paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia) : Review of 80 cases. J Pediatr 1987; 110 : 195-200.
    • (1987) J Pediatr , vol.110 , pp. 195-200
    • Alagille, D.1    Estrada, A.2    Hadchouel, M.3
  • 2
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human jagged1, which encodes a ligand for Notch
    • Li L, Krantz ID, Deng Y et al. Alagille syndrome is caused by mutations in human jagged1, which encodes a ligand for Notch. Nat Genet 1997; 16 : 243-251.
    • (1997) Nat Genet , vol.16 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3
  • 3
    • 0030914459 scopus 로고    scopus 로고
    • Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    • Oda T, Elkahloun AG, Pike BL, Okajima K et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997; 16 : 235-242.
    • (1997) Nat Genet , vol.16 , pp. 235-242
    • Oda, T.1    Elkahloun, A.G.2    Pike, B.L.3    Okajima, K.4
  • 5
    • 0033017848 scopus 로고    scopus 로고
    • Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
    • Emerick KM, Rand EB, Goldmuntz E et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999; 29 : 822-829.
    • (1999) Hepatology , vol.29 , pp. 822-829
    • Emerick, K.M.1    Rand, E.B.2    Goldmuntz, E.3
  • 6
    • 0034877469 scopus 로고    scopus 로고
    • Outcome of liver disease in children with Alagille syndrome: A study of 163 patients
    • Lykavieris P, Hadchouel M, Chardot C, Bernard O.Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut 2001; 49 : 431-435.
    • (2001) Gut , vol.49 , pp. 431-435
    • Lykavieris, P.1    Hadchouel, M.2    Chardot, C.3    Bernard, O.4
  • 8
    • 0001701659 scopus 로고    scopus 로고
    • Renovascular hypertension and vascular anomalies in Alagille syndrome
    • Berard E, Sarles J, Triolo V et al. Renovascular hypertension and vascular anomalies in Alagille syndrome. Pediatr Nephrol 1998; 12 : 121-124.
    • (1998) Pediatr Nephrol , vol.12 , pp. 121-124
    • Berard, E.1    Sarles, J.2    Triolo, V.3
  • 9
    • 0020508450 scopus 로고
    • Intrahepatic "cholestasis facies" : Is it specific for Alagille syndrome?
    • Sokol RJ, Heubi JE, Balistreri WF. Intrahepatic "cholestasis facies" : is it specific for Alagille syndrome? J Pediatr 1983; 103 : 205-208.
    • (1983) J Pediatr , vol.103 , pp. 205-208
    • Sokol, R.J.1    Heubi, J.E.2    Balistreri, W.F.3
  • 10
    • 0029816227 scopus 로고    scopus 로고
    • Abnormal lipoprotein pattern in patients with Alagille syndrome depends on icterus severity
    • Davit-Spraul A, Pourci ML, Atger V et al. Abnormal lipoprotein pattern in patients with Alagille syndrome depends on icterus severity. Gastroenterology 1996; 111 : 1023-1032.
    • (1996) Gastroenterology , vol.111 , pp. 1023-1032
    • Davit-Spraul, A.1    Pourci, M.L.2    Atger, V.3
  • 11
    • 0020626520 scopus 로고
    • Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies
    • Alvarez F, Landrieu P, Laget P et al. Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies. Hepatology 1983; 3 : 410-414.
    • (1983) Hepatology , vol.3 , pp. 410-414
    • Alvarez, F.1    Landrieu, P.2    Laget, P.3
  • 12
    • 0033498896 scopus 로고    scopus 로고
    • Ocular abnormalities in Alagille syndrome
    • Hingorani M, Nischal KK, Davies A et al. Ocular abnormalities in Alagille syndrome. Ophthalmology 1999; 106 : 330-337.
    • (1999) Ophthalmology , vol.106 , pp. 330-337
    • Hingorani, M.1    Nischal, K.K.2    Davies, A.3
  • 13
    • 0029125839 scopus 로고
    • Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy
    • Hoffenberg EJ, Narkewicz MR, Sondheimer JM et al. Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995; 127 : 220-224.
    • (1995) J Pediatr , vol.127 , pp. 220-224
    • Hoffenberg, E.J.1    Narkewicz, M.R.2    Sondheimer, J.M.3
  • 14
    • 0029144847 scopus 로고
    • Liver transplantation in children with Alagille syndrome-A study of twelve cases
    • Cardona J, Houssin D, Gauthier F et al. Liver transplantation in children with Alagille syndrome-A study of twelve cases. Transplantation 1995; 60 : 339-342.
    • (1995) Transplantation , vol.60 , pp. 339-342
    • Cardona, J.1    Houssin, D.2    Gauthier, F.3
  • 15
    • 0030935555 scopus 로고    scopus 로고
    • Orthotopic liver transplantation reverses the adverse nutritional changes of end-stage liver disease in children
    • Holt RI, Broide E, Buchanan CR et al. Orthotopic liver transplantation reverses the adverse nutritional changes of end-stage liver disease in children. Am J Clin Nutr 1997; 65 : 534-542.
    • (1997) Am J Clin Nutr , vol.65 , pp. 534-542
    • Holt, R.I.1    Broide, E.2    Buchanan, C.R.3
  • 16
    • 0026645769 scopus 로고
    • Long-term complications of arteriohepatic dysplasia
    • Schwarzenberg SJ, Grothe RM, Sharp HL et al. Long-term complications of arteriohepatic dysplasia. Am J Med 1992; 93 : 171-176.
    • (1992) Am J Med , vol.93 , pp. 171-176
    • Schwarzenberg, S.J.1    Grothe, R.M.2    Sharp, H.L.3
  • 17
    • 0030890169 scopus 로고    scopus 로고
    • Deletions of 20p12 in Alagille syndrome : Frequency and molecular characterization
    • Krantz ID, Rand EB, Genin A et al Deletions of 20p12 in Alagille syndrome : frequency and molecular characterization. Am J Med Genet 1997; 70 : 80-86.
    • (1997) Am J Med Genet , vol.70 , pp. 80-86
    • Krantz, I.D.1    Rand, E.B.2    Genin, A.3
  • 18
    • 0025251604 scopus 로고
    • Alagille syndrome and deletion of 20p
    • Anad F, Burn J, Matthews D et al. Alagille syndrome and deletion of 20p. J Med Genet 1990; 27 : 729-737.
    • (1990) J Med Genet , vol.27 , pp. 729-737
    • Anad, F.1    Burn, J.2    Matthews, D.3
  • 20
    • 0031778069 scopus 로고    scopus 로고
    • Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families
    • Krantz ID, Colliton RP, Genin A, Rand EB et al. Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet 1998; 62 : 1361-1369.
    • (1998) Am J Hum Genet , vol.62 , pp. 1361-1369
    • Krantz, I.D.1    Colliton, R.P.2    Genin, A.3    Rand, E.B.4
  • 21
    • 0032930909 scopus 로고    scopus 로고
    • Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome
    • Crosnier C, Driancourt C, Raynaud N et al. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 1999; 116 : 1441-1148.
    • (1999) Gastroenterology , vol.116 , pp. 1441-11148
    • Crosnier, C.1    Driancourt, C.2    Raynaud, N.3
  • 23
    • 0033839965 scopus 로고    scopus 로고
    • Jagged1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome
    • Crosnier C, Attie-Bitach T, Encha-Razavi F et al. Jagged1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology 2000; 3 : 574-581.
    • (2000) Hepatology , vol.3 , pp. 574-581
    • Crosnier, C.1    Attie-Bitach, T.2    Encha-Razavi, F.3
  • 25
    • 0033557313 scopus 로고    scopus 로고
    • Unsuspected bile duct paucity in donors for living-related liver transplantation : Two case reports
    • Gurkan A, Emre S, Fishbein TM et al. Unsuspected bile duct paucity in donors for living-related liver transplantation : two case reports. Transplantation 1999; 67 : 416-418.
    • (1999) Transplantation , vol.67 , pp. 416-418
    • Gurkan, A.1    Emre, S.2    Fishbein, T.M.3
  • 26
    • 0031001204 scopus 로고    scopus 로고
    • Alagille syndrome-a notch up for the Notch receptor
    • Artavanis-Tsakonas S. Alagille syndrome-a notch up for the Notch receptor. Nat Genet 1997; 16 : 212-213.
    • (1997) Nat Genet , vol.16 , pp. 212-213
    • Artavanis-Tsakonas, S.1
  • 27
    • 0032755346 scopus 로고    scopus 로고
    • The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
    • Loomes KM, Underkoffler LA, Morabito J et al. The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet 1999; 8 : 2443-2449.
    • (1999) Hum Mol Genet , vol.8 , pp. 2443-2449
    • Loomes, K.M.1    Underkoffler, L.A.2    Morabito, J.3
  • 28
    • 0032737819 scopus 로고    scopus 로고
    • Hepatic Jagged1 expression studies
    • Louis AA, Van Kyken P, Haber BA et al. Hepatic Jagged1 expression studies. Hepatology 1999; 30 : 1269-1275.
    • (1999) Hepatology , vol.30 , pp. 1269-1275
    • Louis, A.A.1    Van Kyken, P.2    Haber, B.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.