Search Results - "Tatu, Sorina"

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis by Corton, Marta, Nishiguchi, Koji M, Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D, Ayuso, Carmen, Rivolta, Carlo

“…Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian trait…”
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population by Corton, Marta, Tatu, Sorina D, Avila-Fernandez, Almudena, Vallespín, Elena, Tapias, Ignacio, Cantalapiedra, Diego, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Bernal, Sara, García-Sandoval, Blanca, Baiget, Montserrat, Ayuso, Carmen

“…CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber…”
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Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis by Corton, Marta, Nishiguchi, Koji M, Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D, Ayuso, Carmen, Rivolta, Carlo

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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,…”
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Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population by Corton, Marta, PhD, Avila-Fernandez, Almudena, PhD, Vallespín, Elena, PhD, López-Molina, María Isabel, MD, Almoguera, Berta, PhD, Martín-Garrido, Esther, BSc, Tatu, Sorina D., MSc, Khan, M. Imran, PhD, Blanco-Kelly, Fiona, MD, PhD, Riveiro-Alvarez, Rosa, PhD, Brión, María, PhD, García-Sandoval, Blanca, MD, PhD, Cremers, Frans P.M., PhD, Carracedo, Angel, MD, PhD, Ayuso, Carmen, MD, PhD

“…Objective We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the…”
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Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families by Sánchez-Alcudia, Rocío, Cortón, Marta, Ávila-Fernández, Almudena, Zurita, Olga, Tatu, Sorina D, Pérez-Carro, Raquel, Fernandez-San Jose, Patricia, Lopez-Martinez, Miguel Ángel, del Castillo, Francisco J, Millan, Jose M, Blanco-Kelly, Fiona, García-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Ayuso, Carmen

“…The aim of this study was to deepen our knowledge on the basis of intrafamilial genetic heterogeneity of inherited retinal dystrophies (RD) to further discern…”
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Late Onset Retinitis Pigmentosa by Ávila-Fernández, Almudena, PhD, Cortón, Marta, PhD, López-Molina, María I., MD, Martín-Garrido, Esther, Cantalapiedra, Diego, PhD, Fernández-Sánchez, Ruth, PhD, Blanco-Kelly, Fiona, MD, Riveiro-Álvarez, Rosa, PhD, Tatu, Sorina D., PhD, Trujillo-Tiebas, María J., PhD, García-Sandoval, Blanca, MD, PhD, Ayuso, Carmen, MD, PhD, Cremers, Frans P.M., MD, PhD

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2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications by González, Nieves, Prieto, Isabel, Del Puerto-Nevado, Laura, Portal-Nuñez, Sergio, Ardura, Juan Antonio, Corton, Marta, Fernández-Fernández, Beatriz, Aguilera, Oscar, Gomez-Guerrero, Carmen, Mas, Sebastián, Moreno, Juan Antonio, Ruiz-Ortega, Marta, Sanz, Ana Belen, Sanchez-Niño, Maria Dolores, Rojo, Federico, Vivanco, Fernando, Esbrit, Pedro, Ayuso, Carmen, Alvarez-Llamas, Gloria, Egido, Jesús, García-Foncillas, Jesús, Ortiz, Alberto

“…Worldwide deaths from diabetes mellitus (DM) and colorectal cancer increased by 90% and 57%, respectively, over the past 20 years. The risk of colorectal…”
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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…”
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Late onset retinitis pigmentosa by Avila-Fernández, Almudena, Cortón, Marta, López-Molina, María I, Martín-Garrido, Esther, Cantalapiedra, Diego, Fernández-Sánchez, Ruth, Blanco-Kelly, Fiona, Riveiro-Álvarez, Rosa, Tatu, Sorina D, Trujillo-Tiebas, María J, García-Sandoval, Blanca, Ayuso, Carmen, Cremers, Frans P M

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