Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance-Reference-Cited by-同舟云学术

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Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

Published:2017-08-15 Issue:1 Volume:9 Page:
ISSN:1866-1947
Container-title:Journal of Neurodevelopmental Disorders
language:en
Short-container-title:J Neurodevelop Disord

Author:

Reid Donna,Moss Jo,Nelson Lisa,Groves Laura,Oliver Chris

Funder

Cerebra

Cornelia de Lange Syndrome Foundation UK and Ireland

University of Birmingham

Publisher

Springer Science and Business Media LLC

Subject

Cognitive Neuroscience,Clinical Neurology,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s11689-017-9208-7.pdf

Reference87 articles.

1. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007;80:485–94.

2. Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012;90(6):1014–27.

3. Gillis LA, McCallum J, Kaur M, Descipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75:610–23.

4. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet. 2006;38:528–30.

5. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004;38:636–41.

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