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, L F, Kaufmann, L, Martínez de la Iglesia, J, Gallastegui, F, Flores, R, Schweigmann, U, Fauth, C, Kotzot, D, Pérez-Jurado, L A
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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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
Cuscó, Ivon, Medrano, Andrés, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fátima, Villa, Olaya, González, Eva, Rodríguez-Santiago, Benjamín, Vilella, Elisabet, Del Campo, Miguel, Pérez-Jurado, Luis A.
Published in Human molecular genetics (15.05.2009)
Published in Human molecular genetics (15.05.2009)
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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, L.A., Brun-Gasca, C.
Published in Research in developmental disabilities (01.03.2011)
Published in Research in developmental disabilities (01.03.2011)
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Partial 7q11.23 deletions further implicate GTF21 and GTF21RD1 as the main genes responsible for the Williams—Beuren syndrome neurocognitive profile
ANTONELL, A, DEL CAMPO, M, PEREZ-JURADO, L. A, MAGANO, L. F, KAUFMANN, L, DE LA IGLESIA, J. Martínez, GALLASTEGUI, F, FLORES, R, SCHWEIGMANN, U, FAUTH, C, KOTZOT, D
Published in Journal of medical genetics (2010)
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Published in Journal of medical genetics (2010)
Journal Article