A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients-Reference-Cited by-同舟云学术

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Published:2009-05-27 Issue:12 Volume:17 Page:1592-1599
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Engels Hartmut,Wohlleber Eva,Zink Alexander,Hoyer Juliane,Ludwig Kerstin U,Brockschmidt Felix F,Wieczorek Dagmar,Moog Ute,Hellmann-Mersch Birgit,Weber Ruthild G,Willatt Lionel,Kreiß-Nachtsheim Martina,Firth Helen V,Rauch Anita

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200990.pdf

Reference30 articles.

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2. Engels H, Brockschmidt A, Hoischen A et al: DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology 2007; 68: 743–750.

3. 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.

4. Redon R, Ishikawa S, Fitch KR et al: Global variation in copy number in the human genome. Nature 2006; 444: 444–454.

5. Mefford HC, Sharp AJ, Baker C et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685–1699.

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