- SNP Array Analysis in Constitutional and Cancer Genome Diagnostics - Copy Number Variants, Genotyping and Quality Control
[作者:de Leeuw, N; Hehir-Kwa, JY; Simons, A; van Kessel, AG; Smeets, DF; Faas, BHW; Pfundt, R,期刊:Cytogenetic and Genome Research, 页码:212-221 , 文章类型: Article,,卷期:2011年135-3-4]
- Array-based comparative genomic hybridization analysis of genomic DNA was first applied in postnatal diagnosis for patients with intellectual disability (ID) and/or congenital anomalies (CA). Genome-wide single-nucleotid...
- Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia
[作者:Poot, M; van der Smagt, JJ; Brilstra, EH; Bourgeron, T,期刊:Cytogenetic and Genome Research, 页码:228-240 , 文章类型: Article,,卷期:2011年135-3-4]
- Analyses of structural genome variation by array-CGH have dramatically enhanced our ability to detect copy number variations (CNVs). De novo CNVs and those co-segregating with disease in a family are generally interprete...
- Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects
[作者:Breckpot, J; Thienpont, B; Arens, Y; Tranchevent, LC; Vermeesch, JR; Moreau, Y; Gewillig, M; Devriendt, K,期刊:Cytogenetic and Genome Research, 页码:251-259 , 文章类型: Article,,卷期:2011年135-3-4]
- Array comparative genomic hybridization (aCGH) has led to an increased detection of causal chromosomal imbalances in individuals with congenital heart defects (CHD). The introduction of aCGH as a diagnostic tool in a cli...
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