ReviewThe application of clinical genetics2016
Alagille syndrome: clinical perspectives.
Review in The application of clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review.Journal of comparative effectiveness research · 2025Pooled it
- Article
- The Brazilian Alagille syndrome study: New insights from a multicenter national cohort.JPGN reports · 2026Article
- Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.Journal of human genetics · 2026Article
- Alagille syndrome case series: five new variants and two large deletions.European journal of pediatrics · 2026Article
- Autosomal Dominant Tubulointerstitial Kidney Disease-UMOD: Case Report and Disease Update.Diagnostics (Basel, Switzerland) · 2026Article
- The disease burden and health-related quality of life in Chinese children with genetic cholestatic liver diseases: a cross-sectional study of progressive familial intrahepatic cholestasis and Alagille syndrome.Orphanet journal of rare diseases · 2026Article
- Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports.JPGN reports · 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
- A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome.International journal of molecular sciences · 2025Article
- Prompt distinction of Alagille syndrome and biliary Atresia in infants: a comparative study.BMC pediatrics · 2025Article
- Treatment of Pruritus With Maralixibat in Early-Stage Chronic Graft Dysfunction of a Child With Alagille Syndrome.Cureus · 2025Article
- Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novelTranslational pediatrics · 2024Article
- Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.Development (Cambridge, England) · 2024Article
- Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.BMC pediatrics · 2024Article
- 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
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Diseases of bile duct in children.World journal of gastroenterology · 2024Review
- Combined inhibition of bile salt synthesis and intestinal uptake reduces cholestatic liver damage and colonic bile salts in mice.JHEP reports : innovation in hepatology · 2024Article
- A child with chronic kidney disease and hepatic dysfunction: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome.
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What OpenQuestion holds
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.