Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing-Reference-Cited by-同舟云学术

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Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing

Published:2015-07-30 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Ji Xiuqing,Liang Dong,Sun Ruihong,Liu Cuiyun,Ma Dingyuan,Wang Yan,Hu Ping,Xu Zhengfeng

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0206-x/fulltext.html

Reference19 articles.

1. Mohamed AN, Ebrahim SA, Aatre R, Qureshi F, Jacques SM, Evans MI. Prenatal diagnosis of a de novo ring chromosome 11. Am J Med Genet. 2001;102(4):368–71.

2. Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, et al. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A. 2007;143A(16):1858–67.

3. Wang HC, Melnyk J, Mc DL, Uchida IA, Carr DH, Goldberg B. Ring chromosomes in human beings. Nature. 1962;195:733–4.

4. Stankiewicz P, Brozek I, Helias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, et al. Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet. 2001;101(3):226–39.

5. Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD.Ring 18 molecular assessment and clinical consequences. American journal of medical genetics Part A. 2015;167A(1):54-63.

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1. Ring Chromosome 18;Human Ring Chromosomes;2024

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3. Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly;2023-09-08

4. The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes;Human Genetics and Genomics Advances;2022-10

5. Circle-Seq: Isolation and Sequencing of Chromosome-Derived Circular DNA Elements in Cells;Methods in Molecular Biology;2020

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