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.

Détails

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ID Serval
serval:BIB_D7C2FDD7A183
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Production externe
Titre
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.
Périodique
Journal of Medical Genetics
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2009
Volume
46
Numéro
2
Pages
123-131
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish. PDF type; Letter to JMG
Mots-clé
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
Création de la notice
17/09/2011 8:47
Dernière modification de la notice
20/08/2019 15:57
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