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
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center.
Li D et al.
International Journal of General Medicine, 2023
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B et al.
American Journal of Human Genetics, 2019
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D et al.
Journal of Applied Genetics, 2014
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
Jurkiewicz D et al.
Human Mutation, 2005
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