-
Krantz ID, Piccoli DA, Spinner NB. Alagille syndrome. J Med Genet. 1997 Feb. 34(2):152-7. [Medline].
-
Watson GH, Miller V. Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child. 1973 Jun. 48(6):459-66. [Medline].
-
Alagille D, Odievre 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 Jan. 86(1):63-71. [Medline].
-
McDaniell R, Warthen DM, Sanchez-Lara PA, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul. 79(1):169-73. [Medline].
-
Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997 Jul. 16(3):243-51. [Medline].
-
Krantz ID, Colliton RP, Genin A, et al. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet. 1998 Jun. 62(6):1361-9. [Medline].
-
Sparks EE, Huppert KA, Brown MA, Washington MK, Huppert SS. Notch Signaling Regulates Formation of the Three-Dimensional Architecture of Intrahepatic Bile Ducts in Mice. Hepatology. 2009. [Medline].
-
Bucuvalas JC, Horn JA, Carlsson L, et al. Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. J Clin Endocrinol Metab. 1993 Jun. 76(6):1477-82. [Medline].
-
Hingorani M, Nischal KK, Davies A, et al. Ocular abnormalities in Alagille syndrome. Ophthalmology. 1999 Feb. 106(2):330-7. [Medline].
-
Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology. 1999 Mar. 29(3):822-9. [Medline].
-
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar. 46(3):168-75. [Medline]. [Full Text].
-
Kamath BM, Podkameni G, Hutchinson AL, et al. Renal anomalies in Alagille syndrome: A disease-defining feature. Am J Med Genet A. 2011 Nov 21. [Medline].
-
Kamath BM, Spinner NB, Rosenblum ND. Renal involvement and the role of Notch signalling in Alagille syndrome. Nat Rev Nephrol. 2013. 9:409-18. [Medline].
-
Kamath BM, Spinner NB, Emmerich KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004. 110:1354-8. [Medline]. [Full Text].
-
Mouzaki M, Bass LM, Sokol RJ, Piccoli DA, Quammie C, Loomes KM, et al. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. Liver Int. 2015 Jul 22. [Medline].
-
Cynamon HA, Andres JM, Iafrate RP. Rifampin relieves pruritus in children with cholestatic liver disease. Gastroenterology. 1990 Apr. 98(4):1013-6. [Medline].
-
Kasahara M, Kiuchi T, Inomata Y, et al. Living-related liver transplantation for Alagille syndrome. Transplantation. 2003 Jun 27. 75(12):2147-50. [Medline].
-
Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology. 1988 Jul. 95(1):130-6. [Medline].
-
[Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. 2005 Jun. 41(6):1407-32. [Medline]. [Full Text].
-
Arnon R, Annunziato R, Miloh T, et al. Orthotopic liver transplantation for children with Alagille syndrome. Pediatr Transplant. 2010 Jan 11. [Medline].
-
Bekassy AN, Garwicz S, Wiebe T, et al. Hepatocellular carcinoma associated with arteriohepatic dysplasia in a 4-year-old girl. Med Pediatr Oncol. 1992. 20(1):78-83. [Medline].
-
Danks DM, Campbell PE, Jack I, et al. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child. 1977 May. 52(5):360-7. [Medline].
-
Gottrand F, Clavey V, Fruchart JC, Farriaux JP. Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome. Atherosclerosis. 1995 Jun. 115(2):233-41. [Medline].
-
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 Aug. 127(2):220-4. [Medline].
-
Kay MH, Wyllie R, Steffen RM. Use of ursodeoxycholic acid in the treatment of arteriohepatic dysplasia. Clin Pediatr (Phila). 1996 Nov. 35(11):593-6. [Medline].
-
Martin SR, Garel L, Alvarez F. Alagille's syndrome associated with cystic renal disease. Arch Dis Child. 1996 Mar. 74(3):232-5. [Medline].
-
Miguet JP, Mavier P, Soussy CJ, Dhumeaux D. Induction of hepatic microsomal enzymes after brief administration of rifampicin in man. Gastroenterology. 1977 May. 72(5 Pt 1):924-6. [Medline].
-
Oestreich AE, Sokol RJ, Suchy FJ, Heubi JE. Renal abnormalities in arteriohepatic dysplasia and nonsyndromic intrahepatic biliary hypoplasia. Ann Radiol (Paris). 1983 Feb-Mar. 26(2-3):203-9. [Medline].
-
Quiros-Tejeira RE, Ament ME, Heyman MB, et al. Variable morbidity in alagille syndrome: a review of 43 cases. J Pediatr Gastroenterol Nutr. 1999 Oct. 29(4):431-7. [Medline].
-
Rabinovitz M, Imperial JC, Schade RR, Van Thiel DH. Hepatocellular carcinoma in Alagille's syndrome: a family study. J Pediatr Gastroenterol Nutr. 1989 Jan. 8(1):26-30. [Medline].
-
Russo PA, Ellis D, Hashida Y. Renal histopathology in Alagille's syndrome. Pediatr Pathol. 1987. 7(5-6):557-68. [Medline].
-
Shulman SA, Hyams JS, Gunta R. Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. Am J Med Genet. 1984 Oct. 19(2):325-32. [Medline].
-
Kamath BM, Chen Z, Romero R, et al. Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome. J Pediatr. 2015 Aug. 167 (2):390-6.e3. [Medline].