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
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing.
Hucko L 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 )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.
Cotellessa L et al.
Jci Insight, 2023
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
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy.
Zhang L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf
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
Lamellar cataract in a child with Alagille syndrome.
Khokhar S et al.
The National Medical Journal of India, 0
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