Updating the Genetic Landscape of Inherited Retinal Dystrophies

by Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán
Published 2021-07-01

An Update on the Genetics of Usher Syndrome

by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso
Published 2011-01-01

Genetic Screening of the Usher Syndrome in Cuba

by Elayne E. Santana, Carla Fuster-García, Carla Fuster-García, Elena Aller, Elena Aller, Teresa Jaijo, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, Gema García-García, José M. Millán, José M. Millán, Araceli Lantigua
Published 2019-05-01

Usher Syndrome: Genetics of a Human Ciliopathy

by Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García
Published 2021-06-01

Prevalent <i>ALMS1</i> Pathogenic Variants in Spanish Alström Patients

by Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde
Published 2021-02-01

USH2A Gene Editing Using the CRISPR System

by Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller
Published 2017-09-01

Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa.

by Cristina Martínez-Fernández de la Cámara, David Salom, Ma Dolores Sequedo, David Hervás, Cristina Marín-Lambíes, Elena Aller, Teresa Jaijo, Manuel Díaz-Llopis, José María Millán, Regina Rodrigo
Published 2013-01-01

A genetic basis for mechanosensory traits in humans.

by Henning Frenzel, Jörg Bohlender, Katrin Pinsker, Bärbel Wohlleben, Jens Tank, Stefan G Lechner, Daniela Schiska, Teresa Jaijo, Franz Rüschendorf, Kathrin Saar, Jens Jordan, José M Millán, Manfred Gross, Gary R Lewin
Published 2012-01-01

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

by Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Published 2020-12-01

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

by Juan Francisco Vázquez-Costa, Juan Francisco Vázquez-Costa, Juan Francisco Vázquez-Costa, María Payá-Montes, Marina Martínez-Molina, Teresa Jaijo, Teresa Jaijo, Jazek Szymanski, Jazek Szymanski, Miguel Mazón, Pablo Sopena-Novales, ENoD Consortium, Jordi Pérez-Tur, Jordi Pérez-Tur, Jordi Pérez-Tur, Teresa Sevilla, Teresa Sevilla, Teresa Sevilla, Beatriz Morte, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Francisco Ortuño, Daniel Lopez-Lopez, Gerrit Bostelmann, Joaquin Dopazo, Luis Alberto Pérez-Jurado
Published 2021-08-01

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

by María José Aparisi, Gema García-García, Elena Aller, María Dolores Sequedo, Cristina Martínez-Fernández de la Cámara, Regina Rodrigo, Miguel Armengot, Julio Cortijo, Javier Milara, Manuel Díaz-LLopis, Teresa Jaijo, José María Millán
Published 2013-01-01