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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
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
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Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F.
Villa O, et al. Among authors: gallastegui f.
Am J Med Genet A. 2007 May 15;143A(10):1108-13. doi: 10.1002/ajmg.a.31709.
Am J Med Genet A. 2007.
PMID: 17431916
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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
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Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology.
Pérez-García D, Granero R, Gallastegui F, Pérez-Jurado LA, Brun-Gasca C.
Pérez-García D, et al. Among authors: gallastegui f.
Res Dev Disabil. 2011 Mar-Apr;32(2):643-52. doi: 10.1016/j.ridd.2010.12.005. Epub 2011 Jan 5.
Res Dev Disabil. 2011.
PMID: 21211940
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