Retinitis pigmentosa and allied conditions today: a paradigm of translational research

por Ayuso, Carmen, Millan, Jose M
Publicado 2010

Genetic Testing for Rare Diseases

por Millán, José M., García-García, Gema
Publicado 2022

Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?

por Perkins, Brian D., Lobo, Glenn P., Kondkar, Altaf A., Millan, Jose M.
Publicado 2023

An Update on the Genetics of Usher Syndrome

por Millán, José M., Aller, Elena, Jaijo, Teresa, Blanco-Kelly, Fiona, Gimenez-Pardo, Ascensión, Ayuso, Carmen
Publicado 2011

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

por Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Millán, José M., García-García, Gema
Publicado 2020

Updating the Genetic Landscape of Inherited Retinal Dystrophies

por García Bohórquez, Belén, Aller, Elena, Rodríguez Muñoz, Ana, Jaijo, Teresa, García García, Gema, Millán, José M.
Publicado 2021

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

por Jaijo, Teresa, Oshima, Aki, Aller, Elena, Carney, Carol, Usami, Shin-ichi, Millán, José M., Kimberling, William J.
Publicado 2012

Efficacy and Safety of Celiac Plexus Neurolysis in the Treatment of Chronic Pain Secondary to Oncological Pathology of the Upper Hemiabdomen: A Systematic Review and Meta-Analysis

por Pacheco-Feijoó, Gloria Melissa, Amado-Tineo, Jose Percy, Plancarte-Sánchez, Ricardo, Valdivia, Carlos Contreras, López-Millán, José M.
Publicado 2023

Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina

por Martínez-Fernández de la Cámara, Cristina, Olivares-González, Lorena, Hervás, David, Salom, David, Millán, José M, Rodrigo, Regina
Publicado 2014

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

por Rodriguez-Muñoz, Ana, Liquori, Alessandro, García-Bohorquez, Belén, Jaijo, Teresa, Aller, Elena, Millán, José M., García-García, Gema
Publicado 2022

Usher Syndrome: Genetics of a Human Ciliopathy

por Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, Millán, José M., García-García, Gema
Publicado 2021

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

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

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

por García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Publicado 2013

Genetic Screening of the Usher Syndrome in Cuba

por Santana, Elayne E., Fuster-García, Carla, Aller, Elena, Jaijo, Teresa, García-Bohórquez, Belén, García-García, Gema, Millán, José M., Lantigua, Araceli
Publicado 2019

Experience of targeted Usher exome sequencing as a clinical test

por Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

por García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Publicado 2014

USH2A Gene Editing Using the CRISPR System

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

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

por Fuster-García, Carla, García-García, Gema, Jaijo, Teresa, Fornés, Neus, Ayuso, Carmen, Fernández-Burriel, Miguel, Sánchez-De la Morena, Ana, Aller, Elena, Millán, José M.
Publicado 2018

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

por Krawitz, Peter M, Schiska, Daniela, Krüger, Ulrike, Appelt, Sandra, Heinrich, Verena, Parkhomchuk, Dmitri, Timmermann, Bernd, Millan, Jose M, Robinson, Peter N, Mundlos, Stefan, Hecht, Jochen, Gross, Manfred
Publicado 2014

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

por Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Publicado 2014