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.

January 12, 2022

PD-L1 Overexpression Correlates with JAK2-V617F Mutational Burden and Is Associated with 9p Uniparental Disomy in Myeloproliferative Neoplasms.

American Journal of Hematology
Jelena D Milosevic FeenstraPeter Valent
December 16, 2021

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Patrick R Gonzales On Behalf Of The Acmg Laboratory Quality Assurance Committee
November 29, 2021

[Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Lifen ZhuXiaofang Sun
November 28, 2021
Open Access

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.

Journal of Personalized Medicine
Hsiang-Yu LinShuan-Pei Lin
November 28, 2021
Open Access

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.

Diagnostics
Diana MicleaGabriela Zaharie
November 23, 2021
Open Access

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.

Frontiers in Endocrinology
Emilia Modolo PintoRaul C Ribeiro
November 20, 2021

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

American Journal of Human Genetics
Antonio CapalboCarlos Simón
November 19, 2021
Case Report

Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21.

Cold Spring Harbor Molecular Case Studies
Nicole BacaFataneh Majlessipour
November 15, 2021
Open Access

Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility.

Frontiers in Molecular Neuroscience
A. K. VictorLawrence Reiter
November 13, 2021

Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue.

Blood
Richa SharmaMarcin W Wlodarski
November 8, 2021
Open Access

Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report.

Molecular Cytogenetics
xiufen buJun He
November 9, 2021
Case Report
Open Access

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype.

Frontiers in Pediatrics
Xu ZhangXin Pan
November 9, 2021
Case Report
Open Access

Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami-Ogata Syndrome.

Frontiers in Pediatrics
Fenxia LiQingxian Chang
November 3, 2021

[Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Lifen ZhuXiaofang Sun
October 23, 2021
Open Access

Investigation of age-related facial variation among Angelman syndrome patients.

Scientific Reports
Olalekan AgboladeYoke Kqueen Cheah

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