A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first-Reference-Cited by-同舟云学术

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Published:2009-05-13 Issue:11 Volume:17 Page:1394-1402
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gijsbers Antoinet CJ,Lew Janet YK,Bosch Cathy AJ,Schuurs-Hoeijmakers Janneke HM,van Haeringen Arie,den Hollander Nicolette S,Kant Sarina G,Bijlsma Emilia K,Breuning Martijn H,Bakker Egbert,Ruivenkamp Claudia AL

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200974.pdf

Reference57 articles.

1. Flint J, Knight S : The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 2003; 13: 310–316.

2. Hoyer J, Dreweke A, Becker C et al: Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 2007; 44: 629–636.

3. Rauch A, Hoyer J, Guth S et al: Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006; 140: 2063–2074.

4. de Vries BB, Pfundt R, Leisink M et al: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606–616.

5. Menten B, Maas N, Thienpont B et al: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006; 43: 625–633.

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