ReviewJournal of medical genetics1997
Alagille syndrome.
Review in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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
53 citing papers in PubMed, 169 citations in OpenAlex.
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Access and reattachment of biliary tree anomaly through Roux-en-Y hepaticojejunostomy: A case report.Radiology case reports · 2024Article
- Alagille-like syndrome with surprising karyotype: a case report.Journal of medical case reports · 2023Article
- Alagille Syndrome: A Case Report.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2022Article
- Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.The American journal of case reports · 2022Article
- Outcomes of internal biliary diversion using cholecystocolostomy for patients with severe Alagille syndrome.Journal of surgical case reports · 2022Article
- Pseudotumor cerebri syndrome in a child with Alagille syndrome: intracranial pressure dynamics and treatment outcome after ventriculoperitoneal shunting.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Two Novel Mutations in theDiagnostics (Basel, Switzerland) · 2021Article
- Notch signaling: Its essential roles in bone and craniofacial development.Genes & diseases · 2021Review
- Transcriptome Analysis Reveals High Similarities between Adult Human Cardiac Stem Cells and Neural Crest-Derived Stem Cells.Biology · 2020Article
- Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study.Hepatology communications · 2020Article
- Notch DosageFrontiers in cell and developmental biology · 2020Article
- Jagged1 is Essential for Radial Glial Maintenance in the Cortical Proliferative Zone.Neuroscience · 2019Article
- Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report.Medicine · 2019Article
- Hepatocellular carcinoma in non-cirrhotic liver: A comprehensive review.World journal of hepatology · 2019Review
- Alagille Syndrome: A Novel Mutation inFrontiers in pediatrics · 2019Article
- Capillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations ofFrontiers in genetics · 2019Article
- Nodular macroregenerative tissue as a pattern of regeneration in cholangiopathic disorders.Pediatric radiology · 2018Article
- Alagille syndrome: Genetics and Functional Models.Current pathobiology reports · 2017Article
- MiR-199b-5p inhibits osteogenic differentiation in ligamentum flavum cells by targeting JAG1 and modulating the Notch signalling pathway.Journal of cellular and molecular medicine · 2017Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome.
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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.