ArticleJournal of medical genetics1995
Alagille syndrome: family studies.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- JAG1 c.1615C > T mutation impairs bile duct regeneration but not differentiation in hepatic organoids derived from a patient with Alagille syndrome.Stem cells translational medicine · 2026Article
- Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.American journal of human genetics · 2024Article
- Alagille syndrome and pregnancy.Obstetric medicine · 2021Article
- Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.Translational gastroenterology and hepatology · 2021Review
- Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.Molecular genetics & genomic medicine · 2020Article
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
- Alagille syndrome: Genetics and Functional Models.Current pathobiology reports · 2017Article
- Article
- Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.American journal of medical genetics. Part A · 2012Article
- Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene.Clinical medicine insights. Pediatrics · 2012Article
- Consequences of JAG1 mutations.Journal of medical genetics · 2003Article
- Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.American journal of human genetics · 2003Article
- Alagille syndrome.Indian journal of pediatrics · 2002Review
- Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.American journal of human genetics · 1998Article
- Alagille syndrome.Journal of medical genetics · 1997Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incidence of new mutations. To determine more accurately the rate of new mutations and to develop criteria for detecting the disorder in parents we systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmological assessment, and chromosome analysis. Six parents had typical anomalies in two or more systems pointing to the presence of autosomal dominant inheritance. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counselling.
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Registered trials
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