Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
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
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course.
Chiang CM et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2022
Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.
Safari-Arababadi A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2018
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children.
Kola S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Prenatal molecular diagnosis of inherited cholestatic diseases.
Jung C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2007
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 2005
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