Associated Papers
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.
Sharma P et al.
Cell Biology International, 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
39823011 (PubMed )
Supplement: tp-13-12-2144-supplementary.pdf
mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs).
Susorov D et al.
Nucleic Acids Research, 2024
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, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.
Isa HM et al.
Advanced Biomedical Research, 2023
A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.
Laochareonsuk W et al.
Plos One, 2022
Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome.
Adams JM et al.
Hepatology (baltimore, Md.), 2020
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
[Target gene sequence capture and next generation sequencing technology to diagnose four children with Alagille syndrome].
Gao ML et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L et al.
Plos One, 2015
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D et al.
Journal of Applied Genetics, 2014
Moyamoya vascular pattern in Alagille syndrome.
Rocha R et al.
Pediatric Neurology, 2012
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP et al.
Human Mutation, 2001
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML et al.
Human Mutation, 2000
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz ID et al.
American Journal of Human Genetics, 1998
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