Associated Papers
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
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
39043182 (PubMed )
Supplement: mmc1.pdf
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
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China.
Li M et al.
International Journal of General Medicine, 2024
Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.
Isa HM et al.
Advanced Biomedical Research, 2023
The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.
Zhang RJ et al.
Clinical Endocrinology, 2022
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.
Sangkhathat S et al.
Journal of Pediatric Genetics, 2018
Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities.
Liu Y et al.
Current Medical Science, 2018
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang NL et al.
Plos One, 2016
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
Dědič T et al.
Plos One, 2015
26618708 (PubMed )
Supplement: pone.0143939.s003.xlsx › List1
A Chinese girl molecularly diagnosed with Alagille syndrome.
Li FB et al.
World Journal of Pediatrics : Wjp, 2010
The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.
Kohsaka T et al.
Hepatology (baltimore, Md.), 2002
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