Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis-Reference-Cited by-同舟云学术

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Published:2014-04-28 Issue:1 Volume:40 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Caramaschi Elisa,Stanghellini Ilaria,Magini Pamela,Giuffrida Maria Grazia,Scullin Silvia,Giuva Tiziana,Bergonzini Patrizia,Guerra Azzurra,Paolucci Paolo,Percesepe Antonio

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1824-7288-40-39.pdf

Reference21 articles.

1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, et al.: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010, 86: 749-764. 10.1016/j.ajhg.2010.04.006.

2. Ahn JW, Bint S, Bergbaum A, Mann K, Hall RP, Ogilvie CM: Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients. Mol Cytogenet. 2013, 6 (1): 16-10.1186/1755-8166-6-16.

3. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE: A copy number variation morbidity map of developmental delay. Nat Genet. 2011, 43: 838-846. 10.1038/ng.909.

4. Prince E, Ring H: Causes of learning disability and epilepsy: a review. Curr Opin Neurol. 2011, 24 (2): 154-158. 10.1097/WCO.0b013e3283444c70.

5. Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB: Global increases in both common and rare copy number load associated with autism. Hum Mol Genet. 2013, 22 (14): 2870-2880. 10.1093/hmg/ddt136.

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