Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes-Reference-Cited by-同舟云学术

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes

Published:2010-09 Issue:5 Volume:53 Page:227-233
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Gijsbers Antoinet C.J.,Bosch Cathy A.J.,Dauwerse Johannes G.,Giromus Osdilly,Hansson Kerstin,Hilhorst-Hofstee Yvonne,Kriek Marjolein,van Haeringen Arie,Bijlsma Emilia K.,Bakker Egbert,Breuning Martijn H.,Ruivenkamp Claudia A.L.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference37 articles.

1. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort;Baptista;Am. J. Hum. Genet.,2008

2. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome;Ben-Shachar;Am. J. Hum. Genet.,2008

3. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features;Bisgaard;Am. J. Med. Genet. A,2006

4. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene;Bonnet;J. Hum. Genet.,2008

5. The human intronless melanocortin 4-receptor gene is NMD insensitive;Brocke;Hum. Mol. Genet.,2002

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