Chromosome microarray analysis
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Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.
23p vibransone 28-03-2024 1 1 Download
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Exon-targeted microarrays can detect small (
15p vioraclene 31-03-2024 5 2 Download
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p viellison 28-03-2024 3 2 Download
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Chiari malformation type I (CMI) is a brain malformation that is characterized by herniation of the cerebellum into the spinal canal. Chiari malformation type I is highly heterogeneous; therefore, an accurate explanation of the pathogenesis of the disease is often not possible. Although some studies showed the role of genetics in CMI, the involvement of genetic variations in CMI pathogenesis has not been thoroughly elucidated. Therefore, in the current study we aim to reveal CMI-associated genomic variations in familial cases.
13p thiencuuchu 27-11-2021 8 1 Download
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Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
9p videshiki2711 19-02-2020 7 0 Download
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Herein, we reported a postnatal case of a newborn who died in early infancy with multiple congenital malformations due to a mosaic de novo tetrasomy 9p detected by Chromosomal Microarray Analysis.
4p vidublin2711 13-01-2020 11 1 Download
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HMGN1 is a nuclear protein that binds to nucleosomes and alters the accessibility of regulatory factors to their chromatin targets. To elucidate its biological function and identify specific HMGN1 target genes, we gener-ated Hmgn1–⁄– mice. DNA microarray analysis of Hmgn1+⁄+ and Hmgn1–⁄– embryonic fibroblasts identified N-cadherin as a potential HMGN1 gene target.
11p dell39 27-03-2013 33 2 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Correction: Tiling microarray analysis of rice chromosome 10 to identify the transcriptome and relate its expression to chromosomal architecture...
1p thulanh19 09-11-2011 44 2 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Tiling microarray analysis of rice chromosome 10 to identify the transcriptome and relate its expression to chromosomal architecture...
17p thulanh19 09-11-2011 65 2 Download