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Volumn 110, Issue 6, 2012, Pages 509-515

Alagille syndrome;Síndrome de alagille

Author keywords

Alagille syndrome; Cholestasis; Hypercholesterolemia; Pruritus

Indexed keywords

COLESTYRAMINE; JAGGED1; NALTREXONE; NOTCH2 RECEPTOR; RIFAMPICIN; URSODEOXYCHOLIC ACID;

EID: 84871383901     PISSN: 03250075     EISSN: 16683501     Source Type: Journal    
DOI: 10.5546/aap.2012.509     Document Type: Review
Times cited : (9)

References (36)
  • 1
    • 0015787705 scopus 로고
    • Arterio-hepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver diseases
    • Watson GH, Miller V. Arterio-hepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver diseases. Arch Dis Child 1973;48:459-66.
    • (1973) Arch Dis Child , vol.48 , pp. 459-466
    • Watson, G.H.1    Miller, V.2
  • 2
    • 0016439420 scopus 로고
    • Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur
    • Alagille D, Odièvre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 1975;86:63-71.
    • (1975) J Pediatr , vol.86 , pp. 63-71
    • Alagille, D.1    Odièvre, M.2    Gautier, M.3    Dommergues, J.P.4
  • 3
    • 0023148932 scopus 로고
    • Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases
    • DOI 10.1016/S0022-3476(87)80153-1
    • Alagille D, Estrada A, Hadchouel M, Gautier M, et al. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediat 1987;110:195-200. (Pubitemid 17016845)
    • (1987) Journal of Pediatrics , vol.110 , Issue.2 , pp. 195-200
    • Alagille, D.1    Estrada, A.2    Hadchouel, M.3
  • 5
    • 0030914459 scopus 로고    scopus 로고
    • Mutations in the human Jaged1 gene are responsible for Alagille syndrome
    • Oda T, Elkahloun AG, Pike BL, Okajima K, et al. Mutations in the human Jaged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16:235-42.
    • (1997) Nat Genet , vol.16 , pp. 235-242
    • Oda, T.1    Elkahloun, A.G.2    Pike, B.L.3    Okajima, K.4
  • 6
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jaged1, which encodes a ligand for Notch1
    • Li L, Krantz ID, Deng Y, Genin A, et al. Alagille syndrome is caused by mutations in human Jaged1, which encodes a ligand for Notch1. Nature Genetics 1997;16(3):243-51.
    • (1997) Nature Genetics , vol.16 , Issue.3 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3    Genin, A.4
  • 9
    • 0034877469 scopus 로고    scopus 로고
    • Outcome of liver disease in children with Alagille syndrome: A study of 163 patients
    • DOI 10.1136/gut.49.3.431
    • Lykavieris P, Hadchouel M, Chardot C and Bernard O. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut 2001;49:431-35. (Pubitemid 32802580)
    • (2001) Gut , vol.49 , Issue.3 , pp. 431-435
    • Lykavieris, P.1    Hadchouel, M.2    Chardot, C.3    Bernard, O.4
  • 11
    • 84857195934 scopus 로고    scopus 로고
    • Alagille syndrome: Pathogenesis, diagnosis and management
    • Tumpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20(3):251-7.
    • (2012) Eur J Hum Genet , vol.20 , Issue.3 , pp. 251-257
    • Tumpenny, P.D.1    Ellard, S.2
  • 12
    • 0037069322 scopus 로고    scopus 로고
    • Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    • DOI 10.1161/01.CIR.0000037221.45902.69
    • McElhinney DB, Krantz ID, Bason L, Piccoli KM, et al: Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002;106:2567-74. (Pubitemid 35340693)
    • (2002) Circulation , vol.106 , Issue.20 , pp. 2567-2574
    • McElhinney, D.B.1    Krantz, I.D.2    Bason, L.3    Piccoli, D.A.4    Emerick, K.M.5    Spinner, N.B.6    Goldmuntz, E.7
  • 15
    • 0036938244 scopus 로고    scopus 로고
    • Vertebral anomalies in children with Alagille syndrome: An analysis of 50 consecutive patients
    • DOI 10.1007/s00247-001-0599-x
    • Sanderson E, Newman V, Haigh SF, Baker A, et al. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediatr Radiol 2002;32:114-19. (Pubitemid 36075673)
    • (2002) Pediatric Radiology , vol.32 , Issue.2 , pp. 114-119
    • Sanderson, E.1    Newman, V.2    Haigh, S.F.3    Baker, A.4    Sidhu, P.S.5
  • 21
    • 77951676607 scopus 로고    scopus 로고
    • An unusual cause of hypertension and renal failure: A case series of a family with Alagille syndrome
    • Shrivastava R, Williams A, Mikhail A, Roberts D, et al. An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome. Nephron Dial Transplant 2010;25:1501-6.
    • (2010) Nephron Dial Transplant , vol.25 , pp. 1501-1506
    • Shrivastava, R.1    Williams, A.2    Mikhail, A.3    Roberts, D.4
  • 22
    • 77951257525 scopus 로고    scopus 로고
    • Glomerular basement membrane lipidosis in Alagille syndrome
    • Davis J, Griffiths R, Larkin K, Rozansky D, et al. Glomerular basement membrane lipidosis in Alagille syndrome. Pediatr Nephrol 2010;25:1181-84.
    • (2010) Pediatr Nephrol , vol.25 , pp. 1181-1184
    • Davis, J.1    Griffiths, R.2    Larkin, K.3    Rozansky, D.4
  • 23
    • 0027262389 scopus 로고
    • Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature
    • DOI 10.1210/jc.76.6.1477
    • Bucuvalas JC, Horn JA, Carlsson L, Balistreri WF, et al. Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. J Clin Endocr Metab 1993;76:1477-82. (Pubitemid 23164364)
    • (1993) Journal of Clinical Endocrinology and Metabolism , vol.76 , Issue.6 , pp. 1477-1482
    • Bucuvalas, J.C.1    Horn, J.A.2    Carlsson, L.3    Balistreri, W.F.4    Chernausek, S.D.5
  • 26
    • 0035261057 scopus 로고    scopus 로고
    • Mutation analysis of Jaged1 (JAG1) in Alagille syndrome patients
    • Colliton RP, Bason L, Lu FM, Piccoli DA, et al. Mutation analysis of Jaged1 (JAG1) in Alagille syndrome patients. Hum Mutat 2001;17:151-52.
    • (2001) Hum Mutat , vol.17 , pp. 151-152
    • Colliton, R.P.1    Bason, L.2    Lu, F.M.3    Piccoli, D.A.4
  • 27
    • 78649873560 scopus 로고    scopus 로고
    • Jaged1 in the portal vein mesenchyme regulates intrahepatic bile duct development: Insights into Alagille syndrome
    • Hofmann JJ, Zovein AC, Koh H, Radtke F, et al. Jaged1 in the portal vein mesenchyme regulates intrahepatic bile duct development: insights into Alagille syndrome. Development 2010;137:4061-72.
    • (2010) Development , vol.137 , pp. 4061-4072
    • Hofmann, J.J.1    Zovein, A.C.2    Koh, H.3    Radtke, F.4
  • 29
    • 10344225384 scopus 로고    scopus 로고
    • Guideline for the Evaluation of Cholestatic Jaundice in Infants: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition
    • Moyer V, Freese DK, Whitington PF, Olson AD, et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2004;39:115-28.
    • (2004) J Pediatr Gastroenterol Nutr , vol.39 , pp. 115-128
    • Moyer, V.1    Freese, D.K.2    Whitington, P.F.3    Olson, A.D.4
  • 30
    • 30344440130 scopus 로고    scopus 로고
    • Relief of intractable pruritis in Alagille syndrome by partial external biliary diversion
    • DOI 10.1016/j.jpedsurg.2005.10.014, PII S0022346805007530
    • Mattei P, von Allmen D, Piccoli D, Rand E: Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion. J Pediatr Surg 2006;41:104-7. (Pubitemid 43067501)
    • (2006) Journal of Pediatric Surgery , vol.41 , Issue.1 , pp. 104-107
    • Mattei, P.1    Von Allmen, D.2    Piccoli, D.3    Rand, E.4
  • 33
    • 68949130861 scopus 로고    scopus 로고
    • Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and Alagille disease
    • Yang H, Porte RJ, Verkade HJ, De Langen ZJ, et al. Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and Alagille disease. J Pediatr Gastroenterol Nutr 2009;49:216-21.
    • (2009) J Pediatr Gastroenterol Nutr , vol.49 , pp. 216-221
    • Yang, H.1    Porte, R.J.2    Verkade, H.J.3    De Langen, Z.J.4
  • 34
    • 84855664493 scopus 로고    scopus 로고
    • Derivación biliar externa parcial: Alternativa terapéutica en el síndrome de Alagille. Primer caso en Argentina
    • Rumbo C, Sandi M, Padín JM, Farinelli P, et al. Derivación biliar externa parcial: Alternativa terapéutica en el síndrome de Alagille. Primer caso en Argentina. Acta Gastroenterol Latinoam 2011;41:324-30.
    • (2011) Acta Gastroenterol Latinoam , vol.41 , pp. 324-330
    • Rumbo, C.1    Sandi, M.2    Padín, J.M.3    Farinelli, P.4
  • 36
    • 77954461697 scopus 로고    scopus 로고
    • Orthotopic liver transplantation for children with Alagille syndrome
    • Arnon R, Annunziato R, Miloh T, Suchy F, et al. Orthotopic liver transplantation for children with Alagille syndrome. Pediatr Transplantation 2010;14:622-8.
    • (2010) Pediatr Transplantation , vol.14 , pp. 622-628
    • Arnon, R.1    Annunziato, R.2    Miloh, T.3    Suchy, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.