Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

BACKGROUND: Array genomic hybridization is being used clinically to detect pathogenic copy number variants in children with intellectual disability and other birth defects. However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution tha...

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में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Friedman, JM, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2009
विषय:
Research article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2781027/
https://ncbi.nlm.nih.gov/pubmed/19917086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-10-526
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