Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy-Reference-Cited by-同舟云学术

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Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Published:2018-04-10 Issue:7 Volume:63 Page:803-810
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Borgulová Irena,Soldatova Inna,Putzová Martina,Malíková Marcela,Neupauerová Jana,Marková Simona Poisson,Trková Marie,Seeman Pavel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0444-9.pdf

Reference40 articles.

1. Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease. Am J Med Genet Part C Semin Med Genet. 2010;154C:329–34.

2. Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, et al. Mechanism of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010;19:1263–75.

3. Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006;14:1154–69.

4. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays. 2000;22:452–9.

5. Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, et al. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet. 2013;1161:1929–39.

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2. Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes;Prenatal Diagnosis;2024-04

3. Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells;American Journal of Medical Genetics Part A;2023-01-04

4. Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts;Genome Biology;2022-10-03

5. Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy;Fetal Diagnosis and Therapy;2022

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