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Page 1
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Cuscó I, et al. Among authors: gallastegui f. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. Hum Mol Genet. 2009. PMID: 19246517 Free PMC article.
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA. Antonell A, et al. Among authors: gallastegui f. J Med Genet. 2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5. J Med Genet. 2010. PMID: 19897463
Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.
Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado LA, Caballero-Andaluz R, Diego-Otero Yd, Guzmán-Alvarez G, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Toma C, et al. Among authors: gallastegui f. World J Biol Psychiatry. 2013 Sep;14(7):516-27. doi: 10.3109/15622975.2011.602719. Epub 2012 Mar 8. World J Biol Psychiatry. 2013. PMID: 22397633