Výsledky vyhledávání - "Fallas Marietha"

Akademický článek

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

Autor: McInnes L, 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

Publikováno v: Molecular Autism, Vol 1, Iss 1, p 5 (2010)

Abstract 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 abnorma

Externí odkaz: https://doaj.org/article/ff6943ec5f924d748a379d504b2e35a5

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Akademický článek

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica

Autor: Fallas Marietha, Esquivel Marcela, Jimenez Patricia, Nakamine Alisa, Ouchanov Leonid, McInnes Lynne A, Monge Silvia, Bondy Pamela, Manghi Elina R

Publikováno v: BMC Psychiatry, Vol 7, Iss 1, p 21 (2007)

Abstract Background We are conducting a genetic study of autism in the isolated population of the Central Valley of Costa Rica (CVCR). A novel Neuregulin 1 (NRG1) missense variant (exon 11 G>T) was recently associated with psychosis and schizophrenia

Externí odkaz: https://doaj.org/article/851e203e686349c8820f8446cb1988af

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