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

Authors :: Bruno, D.L.
Ganesamoorthy, D.
Schoumans, J.
Bankier, A.
Coman, D.
Delatycki, M.
Gardner, R.J.M.
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, Zho
Ngo, C.
Choy, K.W.
Cacheux, V.
Wong, L.
Amor, D.J.
Slater, H.R.
Source :: Journal of Medical Genetics. Feb, 2009, Vol. 46 Issue 2, p123, 9 p.
Publication Year :: 2009

Subjects :: DNA microarrays -- Usage
DNA microarrays -- Research
Genetic disorders -- Diagnosis
Genetic disorders -- Research
Genetic variation -- Analysis
Single nucleotide polymorphisms -- Analysis
Health

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