Search Results - "San Jose, Patricia"

Evaluation of Bone Mineral Density Loss in Morbidly Obese Women After Gastric Bypass: 3-Year Follow-Up by Vilarrasa, Nuria, San José, Patricia, García, Isabel, Gómez-Vaquero, Carmen, Medina Miras, Pilar, de Gordejuela, Amador G. Ruiz, Masdevall, Carles, Pujol, Jordi, Soler, Joan, Gómez, José Manuel

“…Studies that evaluate the influence of gastric bypass (RYGP) on bone mass are limited to short-term follow-up. We analysed changes in bone mineral density…”
Get full text

Obesity in Patients with Type 1 Diabetes: Links, Risks and Management Challenges by Vilarrasa, Nuria, San Jose, Patricia, Rubio, Miguel Ángel, Lecube, Albert

“…Obesity affects large numbers of patients with type 1 diabetes (T1D) across their lifetime, with rates ranging between 2.8% and 37.1%. Patients with T1D and…”
Get full text

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families by Martin-Merida, Inmaculada, Aguilera-Garcia, Domingo, Fernandez-San, Jose P, Blanco-Kelly, Fiona, Zurita, Olga, Almoguera, Berta, Garcia-Sandoval, Blanca, Avila-Fernandez, Almudena, Arteche, Ana, Minguez, Pablo, Carballo, Miguel, Corton, Marta, Ayuso, Carmen

“…To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the…”
Get full text

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 by 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

“…This study aimed to test a newly devised cost-effective multiplex PCR assay for the molecular diagnosis of autosomal dominant retinitis pigmentosa (adRP), as…”
Get full text

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement by Martin-Merida, Inmaculada, Sanchez-Alcudia, Rocio, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Perez-Carro, Raquel, Rodriguez-Jacy da Silva, Luciana, Almoguera, Berta, Garcia-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Avila-Fernandez, Almudena, Carballo, Miguel, Corton, Marta, Ayuso, Carmen

“…The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge…”
Get full text

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients by Fernandez-San Jose, Patricia, Corton, Marta, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Lopez-Martinez, Miguel Angel, Sanchez-Navarro, Iker, Sanchez-Alcudia, Rocio, Perez-Carro, Raquel, Zurita, Olga, Sanchez-Bolivar, Noelia, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Riveiro-Alvarez, Rosa, Ayuso, Carmen

“…Next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in retinal dystrophies, a group of inherited…”
Get full text

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families by Fernandez‐San Jose, Patricia, Blanco‐Kelly, Fiona, Corton, Marta, Trujillo‐Tiebas, Maria‐Jose, Gimenez, Ascension, Avila‐Fernandez, Almudena, Garcia‐Sandoval, Blanca, Lopez‐Molina, Maria‐Isabel, Hernan, Inma, Carballo, Miguel, Riveiro‐Alvarez, Rosa, Ayuso, Carmen

“…Purpose We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), to assess…”
Get full text

A discrete choice experiment to understand preferences of patients with type 2 diabetes about the attributes of GLP1 receptor agonists in Spain by San José, Patricia, Monteagudo, Ana, Picó, Antonio, Sequera, Miren, Medina, Jesús

“…To determine the preferences regarding injection, medication frequency and complexity of GLP1 receptor agonists among patients with type 2 diabetes,…”
Get full text

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients by Bhattacharya, Shomi S., Chakarova, Christina, López-Molina, Maria Isabel, Ávila-Fernández, Almudena, Panchev, Valentin, Fernández-San Jose, Patricia, García-Sandoval, Blanca, Corton, Marta, Kamenarova, Kunka, Ayuso, Carmen

“…Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1) mutations identified in unrelated Spanish families affected by autosomal…”
Get full text

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

“…This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families…”
Get full text

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

“…Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at…”
Get full text

Pancreatic ductal cells may have a negative effect on human islet transplantation by Marín-Cañas, Sandra, Estil Les, Elisabet, Llado, Laura, San José, Patricia, Nacher, Montserrat, Téllez, Noèlia, Montanya, Eduard

“…To evaluate the effect of pancreatic ductal cells on experimental human islet transplantation. Isolated islets were additionally purified by handpicking…”
Get full text

Effect of Bariatric Surgery on Bone Mineral Density: Comparison of Gastric Bypass and Sleeve Gastrectomy by Vilarrasa, Nuria, de Gordejuela, Amador G. Ruiz, Gómez-Vaquero, Carmen, Pujol, Jordi, Elio, Iñaki, San José, Patricia, Toro, Silvia, Casajoana, Anna, Gómez, José Manuel

“…The aim of our study was to compare bone mineral density (BMD) a year after Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) in age- and body mass…”
Get full text

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
Get full text

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies by Riveiro-Alvarez, Rosa, PhD, Lopez-Martinez, Miguel-Angel, SLT, Zernant, Jana, MSc, Aguirre-Lamban, Jana, PhD, Cantalapiedra, Diego, BSc, Avila-Fernandez, Almudena, PhD, Gimenez, Ascension, SLT, Lopez-Molina, Maria-Isabel, MD, Garcia-Sandoval, Blanca, MD, PhD, Blanco-Kelly, Fiona, MD, PhD, Corton, Marta, PhD, Tatu, Sorina, BSc, Fernandez-San Jose, Patricia, BSc, Trujillo-Tiebas, Maria-Jose, PhD, Ramos, Carmen, PhD, Allikmets, Rando, PhD, Ayuso, Carmen, MD, PhD

“…Objective To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders,…”
Get full text

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families by Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Zernant, Jana, Aguirre-Lamban, Jana, Cantalapiedra, Diego, Avila-Fernandez, Almudena, Gimenez, Ascension, Lopez-Molina, Maria-Isabel, Garcia-Sandoval, Blanca, Blanco-Kelly, Fiona, Corton, Marta, Tatu, Sorina, Fernandez-San Jose, Patricia, Trujillo-Tiebas, Maria-Jose, Ramos, Carmen, Allikmets, Rando, Ayuso, Carmen

“…To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including…”
Get full text

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa by Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L, Rivolta, Carlo

“…Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis…”
Get full text

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

“…Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous…”
Get full text

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

“…This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa. The aim of this…”
Get full text

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

“…Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different…”
Get full text