Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

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Serval ID
serval:BIB_D7C2FDD7A183
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Production externe
Title
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Journal
Journal of Medical Genetics
Author(s)
Bruno D.L., Ganesamoorthy D., Schoumans J., Bankier A., Coman D., Delatycki M., Gardner R.J., Hunter M., James P.A., Kannu P., McGillivray G., Pachter N., Peters H., Rieubland C., Savarirayan R., Scheffer I.E., Sheffield L., Tan T., White S.M., Yeung A., Bowman Z., Ngo C., Choy K.W., Cacheux V., Wong L., Amor D.J., Slater H.R.
ISSN
1468-6244 (Electronic)
ISSN-L
0022-2593
Publication state
Published
Issued date
2009
Volume
46
Number
2
Pages
123-131
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublish. PDF type; Letter to JMG
Keywords
Cytogenetic Analysis, Gene Dosage, Gene Expression Profiling, Genetic Variation, Genome, Human, Humans, Loss of Heterozygosity, Mental Retardation/diagnosis, Mental Retardation/genetics, Microarray Analysis, Polymorphism, Single Nucleotide/genetics
DOI
10.1136/jmg.2008.062604
Pubmed
19015223
Web of science
000263031200008
Create date
17/09/2011 9:47
Last modification date
20/08/2019 16:57
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