Obesity in Patients with Type 1 Diabetes: Links, Risks and Management Challenges

por Vilarrasa, Nuria, San Jose, Patricia, Rubio, Miguel Ángel, Lecube, Albert
Publicado 2021

Pancreatic ductal cells may have a negative effect on human islet transplantation

por Marín-Cañas, Sandra, Estil·les, Elisabet, Llado, Laura, San José, Patricia, Nacher, Montserrat, Téllez, Noèlia, Montanya, Eduard
Publicado 2019

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

por Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L., Rivolta, Carlo
Publicado 2014

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP

por de Sousa Dias, Miguel, Hernan, Imma, Delás, Barbara, Pascual, Beatriz, Borràs, Emma, Gamundi, Maria José, Mañé, Begoña, Fernández-San José, Patricia, Ayuso, Carmen, Carballo, Miguel
Publicado 2015

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

por Kamenarova, Kunka, Corton, Marta, García-Sandoval, Blanca, Fernández-San Jose, Patricia, Panchev, Valentin, Ávila-Fernández, Almudena, López-Molina, Maria Isabel, Chakarova, Christina, Ayuso, Carmen, Bhattacharya, Shomi S.
Publicado 2013

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

por Blanco-Kelly, Fiona, García Hoyos, María, Lopez Martinez, Miguel Angel, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Fernandez-San Jose, Patricia, Avila-Fernandez, Almudena, Corton, Marta, Millan, Jose M., García Sandoval, Blanca, Ayuso, Carmen
Publicado 2016

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

por Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Publicado 2014

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

por Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Publicado 2015

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

por Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Publicado 2016

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

por Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Publicado 2016