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
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Vandriel SM et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome.
Vázquez-Frias R et al.
International Journal of Molecular Sciences, 2025
Genetic disorders leading to severe hyperlipidemia in children: A case report.
Jiang CX et al.
World Journal of Clinical Cases, 2025
Beyond pruritus in Alagille syndrome: potential effects of maralixibat on fibrosis and portal hypertension-insights from two case studies.
Quintero-Bernabeu J et al.
Frontiers in Medicine, 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
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Peterlin A et al.
Life (basel, Switzerland), 2024
Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.
Yan J et al.
Bmc Pediatrics, 2024
Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.
Ruiz-Chavolla D et al.
Ophthalmic Genetics, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
Semenova N et al.
International Journal of Molecular Sciences, 2023
Premature senescence of the liver in Alagille patients.
Jannone G et al.
Plos One, 2023
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
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
Qiao F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Rajagopalan R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D et al.
Journal of Applied Genetics, 2014
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
Lin HC et al.
American Journal of Medical Genetics. Part A, 2012
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
Jurkiewicz D et al.
Human Mutation, 2005