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Uniparental disomy

disorder
SNOMED 726400003CUI C0949628

Overview

Uniparental disomy is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Uniparental Disomies" from the MEDLINE/PubMed database.

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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2024
PMID: 38540405Meta-AnalysisFull text (PMC)
Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.
[object Object], [object Object], [object Object] et al. · Curr Pediatr Rev · 2023
PMID: 35293298Meta-Analysis
Autism spectrum disorder in Prader-Willi syndrome: A systematic review.
[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2015
PMID: 26331980Meta-Analysis
Patterns of somatic uniparental disomy identify novel tumor suppressor genes in colorectal cancer.
[object Object], [object Object], [object Object] et al. · Carcinogenesis · 2015
PMID: 26243311Meta-AnalysisFull text (PMC)
Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis.
[object Object], [object Object], [object Object] et al. · PLoS One · 2013
PMID: 23967326Meta-AnalysisFull text (PMC)
Sex-specific chromosome instability in early human development.
[object Object] · Am J Med Genet A · 2005
PMID: 16001445Meta-Analysis
Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.
[object Object] · Am J Med Genet · 2002
PMID: 12210294Meta-Analysis
A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value.
[object Object], [object Object], [object Object] et al. · Blood · 2010
PMID: 20616218RCT
Gonadotropin administration after gonadotropin-releasing-hormone agonist: a therapeutic option in severe testiculopathies.
[object Object], [object Object], [object Object] et al. · Fertil Steril · 2009
PMID: 18829015RCT
Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literature.
[object Object], [object Object], [object Object] et al. · Int J Legal Med · 2025
PMID: 40021560Review
Search all PubMed articles for Uniparental disomy

Research data from MEDLINE/PubMed

Quick Facts

SNOMED CT
726400003
UMLS CUI
C0949628
Fully Specified Name
Uniparental disomy (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.