ArticleJournal of medical genetics1994
Segregation analysis of Alagille syndrome.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.Journal of pediatric gastroenterology and nutrition · 2018Pooled it
- 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 non-syndromic paucity of the intrahepatic bile ducts.Translational gastroenterology and hepatology · 2021Review
- Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome.BMC medical genetics · 2020Article
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
- [Clinical and genetic study of an infant with Alagille syndrome: identification of a novel chromosomal interstitial deletion including JAG1 gene].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- Alagille syndrome: Genetics and Functional Models.Current pathobiology reports · 2017Article
- Article
- Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.Journal of applied genetics · 2014Article
- Alagille syndrome: pathogenesis, diagnosis and management.European journal of human genetics : EJHG · 2012Review
- Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.American journal of human genetics · 1998Article
- [Endocrinologic and metabolic complications of Alagille syndrome].Medizinische Klinik (Munich, Germany : 1983) · 1997Article
- Alagille syndrome.Journal of medical genetics · 1997Review
- Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?European journal of pediatrics · 1996Article
- Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.American journal of human genetics · 1995Article
- Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.Human genetics · 1995Article
- Alagille syndrome: family studies.Journal of medical genetics · 1995Article
- Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.Mammalian genome : official journal of the International Mammalian Genome Society · 1994Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome (AGS) is a well defined genetic disorder characterised by five major features. An autosomal dominant mode of transmission with reduced penetrance has been suggested by the analysis of a limited number of families. However there has been no statistical analysis. We report here the first segregation analysis of AGS, using 33 families collected through 43 probands. Segregation analysis of these families allowed us to conclude that AGS is transmitted as a dominant disorder with 94% penetrance and 15% of cases are sporadic. The expressivity of the phenotype was variable and 26 persons (15 parents and 11 sibs) were identified as presenting minor forms of the disease. These results are valuable for genetic counselling.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.