Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda, Abdel Elkahloun, Brian L. Pike et al. · Nature Genetics · 1997 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +6

NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara et al. · The American Journal of Human Genetics · 2006 · 743 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases

D Alagille, Andrea Estrada, Michelle Hadchouel et al. · The Journal of Pediatrics · 1987 · 669 citations

Medicine, Internal Medicine, Pathology +14

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz et al. · Hepatology · 1999 · 664 citations · Full text

Medicine, Pathology, Pediatrics +17