A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability-Reference-Cited by-同舟云学术

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

Published:2018-09-06 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Ceroni J. R. M.,Dutra R. L.,Honjo R. S.,Llerena J. C.,Acosta A. X.,Medeiros P. F. V.,Galera M. F.,Zanardo É. A.,Piazzon F. B.,Dias A. T.,Novo-Filho G. M.,Montenegro M. M.,Madia F. A. R.,Bertola D. R.,de Melo J. B.,Kulikowski L. D.,Kim C. A.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-31754-2.pdf

Reference35 articles.

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2. Pinto, D., Marshall, C., Feuk, L. & Scherer, S. W. Copy-number variation in control population cohorts. Hum Mol Genet. 2, 168–173 (2007).

3. Miller, D. T. et al. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. American Journal of Human Genetics. 86, 749–764 (2010).

4. Liu, P., Carvalho, C. M., Hastings, P. J. & Lupski, J. R. Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev. 22, 211–220 (2012).

5. Carvalho, C. M. et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 18, 2188–2203 (2009).

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