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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2009
Soggetti:
Research article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi