Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements-Reference-Cited by-同舟云学术

Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements

Published:2008-03 Issue:2 Volume:51 Page:93-105
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Stegmann A.P.A.,Jonker L.M.H.,Engelen J.J.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference28 articles.

1. Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre;Ahn;B.M.C. Med. Genet.,2007

2. The end of the beginning of chromosome ends;Biesecker;Am. J. Med. Genet.,2002

3. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome;Bonaglia;J. Med. Genet.,2004

4. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons;Chai;Am. J. Hum. Genet.,2003

5. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist;De Vries;J. Med. Genet.,2001

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3. Subtelomeric aberrations in Thai patients with idiopathic mental retardation and autism detected by multiplex ligation-dependent probe amplification;ASIAN BIOMED;2015

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5. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability;Romanian Review of Laboratory Medicine;2014-01-01