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
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Vandriel SM et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
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
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Peterlin A et al.
Life (basel, Switzerland), 2024
Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.
Yan J et al.
Bmc Pediatrics, 2024
Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.
Ruiz-Chavolla D et al.
Ophthalmic Genetics, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
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Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
Semenova N et al.
International Journal of Molecular Sciences, 2023
Premature senescence of the liver in Alagille patients.
Jannone G et al.
Plos One, 2023
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
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