Associated Papers
Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.
Gusarova EA et al.
Journal of Human Genetics, 2026
A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome.
Vázquez-Frias R et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations.
Chen L et al.
Translational Pediatrics, 2024
Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.
Yan J et al.
Bmc Pediatrics, 2024
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Premature senescence of the liver in Alagille patients.
Jannone G et al.
Plos One, 2023
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases.
Li B et al.
Computational and Structural Biotechnology Journal, 2021
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L et al.
Plos One, 2015
Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome.
Wang H et al.
Gene, 2012
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML et al.
Human Mutation, 2000
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.
Crosnier C et al.
Gastroenterology, 1999
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Pilia G et al.
Human Mutation, 1999
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz ID et al.
American Journal of Human Genetics, 1998