- 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; 16: 243–251.
- Alagille D, Estrada A, Hadchouel M, et al Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 1987; 110: 195–200.
- Oda T, Elkahloun AG, Pike BL, et al Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997; 16: 235–242.
- Yuan ZR, Okaniwa M, Nagata I, et al The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome. Clin Genet 2001; 59: 330–337.
- Artavanis-Tsakonas S, Matsuno K, Fortini ME. Notch signaling. Science 1995; 268: 225–232.
- Emerick KM, Rand EB, Goldmuntz Z, et al Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999; 29: 822–829.
- Jurkiewicz D, Popowska E, Glaser C, et al Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. Hum Mutat 2005; 25: 321–327.
- Giannakudis J, Ropke A, Kujat A, et al Parental mosaicism of JAG1 mutations in families with Alagille syndrome. Eur J Hum Genet 2001; 9: 209–216.
- Crosnier C, Driancourt C, Raynaud N, et al Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 1999; 116: 1141–1148.
- Lykavieris P, Crosnier C, Trichet C, et al Bleeding tendency in children with Alagille syndrome. Pediatrics 2003; 111: 167–170.
- Lindner V, Booth C, Prudovsky I, et al Members of the Jagged/Notch gene families are expressed in injured arteries and regulate cell phenotype via alterations in cell matrix and cell-cell interaction. Am J Pathol 2001; 159: 875–883.
- Choose new content alerts to be informed about new research of interest to you
- Easy remote access to your institution's subscriptions on any device, from any location
- Save your searches and schedule alerts to send you new results
- Export your search results into a .csv file to support your research