Uniparental Disomy

Uniparental Disomy occurs when one inherits two homologous chromosomes from a single parent and can lead to genetic disorders. Discover the latest research on Uniparental Disomy here.

December 11, 2020

Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome

Epigenetics : Official Journal of the DNA Methylation Society
Suhee ChangJennifer M Kalish
November 26, 2020
Open Access

Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum

The Journal of Clinical Endocrinology and Metabolism
Tomoko FukeMasayo Kagami
November 18, 2020
Case Report

Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14

Cytogenetic and Genome Research
Voula VelissariouEunice G Stefanou
January 20, 2021

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth

The Journal of Pediatrics
Diana CarliAlessandro Mussa
November 22, 2020
Review
Open Access

Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches

Pharmacological Reviews
Torsten Schöneberg, Ines Liebscher
November 16, 2020
Open Access

Anesthetic management of a 12-year-old child with Kagami-Ogata syndrome for pectus excavatum: a case report

JA Clinical Reports
Hisako NishimotoYoshiki Nakajima
September 23, 2020
Open Access

Prader-Willi syndrome: reflections on seminal studies and future therapies

Open Biology
Michael S ChungGordon G Carmichael
October 18, 2020

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

Journal of Human Genetics
Jessica OmarkTsutomu Ogata
September 13, 2020
Open Access

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping ChenWayseen Wang
September 11, 2020

Uniparental disomy of chromosome 21: A statistical approach and application in paternity tests

Forensic Science International. Genetics
C P CavalheiroC S Alho
September 15, 2020
Review
Open Access

Dietary Management for Adolescents with Prader-Willi Syndrome

Adolescent Health, Medicine and Therapeutics
Jennifer L Miller, Michael Tan
October 30, 2020
Open Access

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

Molecular Genetics and Metabolism Reports
Kloth KatjaMuschol Nicole Maria
November 13, 2020
Review

Uniparental disomy: Origin, frequency, and clinical significance

Prenatal Diagnosis
Peter Benn
December 15, 2020

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

Human Reproduction
Ana Pinheiro Machado CantonAna Claudia Latronico
November 3, 2020
Open Access

Diagnosing Wilson's Disease under the sword of Damocles

Neurologia i neurochirurgia polska
Ronald F Pfeiffer
October 27, 2020
Review
Open Access

Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome

Frontiers in Genetics
Chiara PapulinoLucia Altucci

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