Cargando…
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
BACKGROUND: The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. Gene dosage abnormalities, including copy number v...
Autores principales: | McInnes, L Alison, Nakamine, Alisa, Pilorge, Marion, Brandt, Tracy, Jiménez González, Patricia, Fallas, Marietha, Manghi, Elina R, Edelmann, Lisa, Glessner, Joseph, Hakonarson, Hakon, Betancur, Catalina, Buxbaum, Joseph D |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907565/ https://www.ncbi.nlm.nih.gov/pubmed/20678247 http://dx.doi.org/10.1186/2040-2392-1-5 |
Ejemplares similares
-
The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica
por: McInnes, Lynne A, et al.
Publicado: (2007) -
A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases
por: McInnes, L Alison, et al.
Publicado: (2005) -
Common variants in polygenic schizophrenia
por: Glessner, Joseph T, et al.
Publicado: (2009) -
ParseCNV integrative copy number variation association software with quality tracking
por: Glessner, Joseph T., et al.
Publicado: (2013) -
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT
por: Cai, Guiqing, et al.
Publicado: (2008)