Effect of AGG Interruptions on FMR1 Maternal Transmissions

by Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada
Published 2020-07-01

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syn...

by Olatz Villate, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada
Published 2018-01-01

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

by María Isabel Tejada, María Isabel Tejada, María Isabel Tejada, Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Ana Belén de la Hoz, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Beatriz Sobrino, Francisco Barros, Francisco Barros
Published 2019-10-01

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

by Sergio Aguilera-Albesa, Sergio Aguilera-Albesa, Ana Belén de la Hoz, Ana Belén de la Hoz, Nekane Ibarluzea, Nekane Ibarluzea, Andrés R. Ordóñez-Castillo, Olivia Busto-Crespo, Olatz Villate, Olatz Villate, Olatz Villate, María Asunción Ibiricu-Yanguas, María Asunción Ibiricu-Yanguas, María E. Yoldi-Petri, María E. Yoldi-Petri, Iñaki García de Gurtubay, Iñaki García de Gurtubay, Guiomar Perez de Nanclares, Arrate Pereda, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada
Published 2020-02-01

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

by Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, Itxaso Martí, Miriam Guitart, Elisabeth Gabau, Fernando Andrade, Blanca Gener, María-Isabel Tejada
Published 2020-01-01

GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.

by Tatiane C Nogueira, Flavia M Paula, Olatz Villate, Maikel L Colli, Rodrigo F Moura, Daniel A Cunha, Lorella Marselli, Piero Marchetti, Miriam Cnop, Cécile Julier, Decio L Eizirik
Published 2013-05-01