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Items: 5

1.

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

McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD.

Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.

2.

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

McInnes LA, Ouchanov L, Nakamine A, Jimenez P, Esquivel M, Fallas M, Monge S, Bondy P, Manghi ER.

BMC Psychiatry. 2007 May 22;7:21.

3.

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA.

Am J Med Genet A. 2008 Mar 1;146A(5):636-43.

PMID:
17334992
4.

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.

J Med Genet. 2007 Feb;44(2):136-43. Epub 2006 Sep 13.

5.

A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases.

McInnes LA, González PJ, Manghi ER, Esquivel M, Monge S, Delgado MF, Fournier E, Bondy P, Castelle K.

BMC Psychiatry. 2005 Mar 21;5:15.

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