ReviewJournal of medical genetics1990
Alagille syndrome and deletion of 20p.
Review in Journal of medical genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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.
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Who cites it
23 citing papers in PubMed.
- Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.Clinical genetics · 2025Article
- Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.Molecular genetics & genomic medicine · 2020Article
- Genetic, environmental, and epigenetic factors involved in CAKUT.Nature reviews. Nephrology · 2015Review
- Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.PloS one · 2013Article
- Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2.American journal of medical genetics. Part A · 2012Article
- Multiple loci associated with indices of renal function and chronic kidney disease.Nature genetics · 2009Article
- 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.Journal of medical genetics · 2009Article
- SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.Human mutation · 2009Article
- Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.Journal of medical genetics · 2005Review
- Alagille syndrome.Indian journal of pediatrics · 2002Review
- Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.American journal of human genetics · 2002Article
- 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
- 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
- Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.American journal of human genetics · 1994Article
- Segregation analysis of Alagille syndrome.Journal of medical genetics · 1994Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.
Indexed as
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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.