Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Ángela del Pozo"'
Autor:
Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 1, Pp 465-478 (2023)
A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families. Ele
Externí odkaz:
https://doaj.org/article/06c0461c3cf14cbaa18b8f4345a23a21
Autor:
Eloísa Sánchez-Cazorla, Carmen González-Atienza, Ana López-Vázquez, Natalia Arruti, María Nieves-Moreno, Susana Noval, Rocío Mena, Carmen Rodríguez-Jiménez, Patricia Rodríguez-Solana, Eva González-Iglesias, Marta Guerrero-Carretero, Oriana D’Anna Mardero, Javier Coca-Robinot, Juan Carlos Acal, Joana Blasco, Carlos Castañeda, Jesús Fraile Maya, Ángela Del Pozo, María V. Gómez-Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Carlos Rodríguez-Antolín, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15676 (2023)
High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high
Externí odkaz:
https://doaj.org/article/1ad9657f955a4f74b9d6e21b136eb219
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
Autor:
Patricia Rodríguez-Solana, Natalia Arruti, María Nieves-Moreno, Rocío Mena, Carmen Rodríguez-Jiménez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesús M. Peralta, Ángela Del Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Celia Fernández-Alcalde, Carmen González-Atienza, Eloísa Sánchez-Cazorla, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11429 (2023)
Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in ch
Externí odkaz:
https://doaj.org/article/0f5b167e93394fbca7496fda8af9de17
Autor:
Celia Fernández-Alcalde, María Nieves-Moreno, Susana Noval, Jesús M. Peralta, Victoria E. F. Montaño, Ángela del Pozo, Fernando Santos-Simarro, Elena Vallespín
Publikováno v:
Genes, Vol 12, Iss 4, p 580 (2021)
Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members
Externí odkaz:
https://doaj.org/article/40a0a2f62e1144f8be416b9bf7114383
Autor:
Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 52-55 (2017)
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation S
Externí odkaz:
https://doaj.org/article/42b7d79a56724aa28834d2e0366ea0f1
Akademický článek
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Autor:
Marta Pacio‐Miguez, Manuel Parrón‐Pajares, Christopher T. Gordon, Fernando Santos‐Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F. Montaño, María Fernández, Mario Solís, Ángela del Pozo, Jeanne Amiel, Sixto García‐Miñaur, María Palomares‐Bralo
Publikováno v:
American Journal of Medical Genetics Part A. 188:2819-2824
Autor:
Lara, Rodriguez-Laguna, Noelia, Agra, Kristina, Ibañez, Gloria, Oliva-Molina, Gema, Gordo, Noor, Khurana, Devon, Hominick, María, Beato, Isabel, Colmenero, Gonzalo, Herranz, Juan M, Torres Canizalez, Rebeca, Rodríguez Pena, Elena, Vallespín, Rubén, Martín-Arenas, Ángela, Del Pozo, Cristina, Villaverde, Ana, Bustamante, Carmen, Ayuso, Pablo, Lapunzina, Juan C, Lopez-Gutierrez, Michael T, Dellinger, Victor, Martinez-Glez
Publikováno v:
The Journal of Experimental Medicine
Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). Here, Rodriguez-Laguna et al. report that somatic activating PIK3CA mutations can cause GLA, and we provide preclinical a
Autor:
Carmen, Rodríguez-Jiménez, Fernando, Santos-Simarro, Ángel, Campos-Barros, Carmen, Camarena, Dolores, Lledín, Elena, Vallespín, Ángela, Del Pozo, Rocío, Mena, Pablo, Lapunzina, Sonia, Rodríguez-Nóvoa
Publikováno v:
Molecular Genetics and Metabolism Reports
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation S
Autor:
Ana V. Marin, José R. Regueiro, María Merino, Angel L. Corbí, María Coronel Díaz, Rebeca Rodríguez Pena, Anaïs Jiménez-Reinoso, Francisco Javier Aracil Santos, Elena Vallespín García, Diego Plaza Lopez de Sabando, Hugh T. Reyburn, Juan Torres Canizales, Mar Valés-Gómez, Ernesto Roldán Santiago, Raúl de Lucas-Laguna, Laura Casamayor Polo, Ángeles Domínguez-Soto, Alfonso Blázquez Moreno, María Bravo García-Morato, Paula P. Cárdenas, Yasmina Mozo del Castillo, Eduardo López-Granados, Francisco José Sanz Santaeufemia, Lucía del Pino Molina, Ángela del Pozo Maté, Antonio Ferreira Cerdán, Julián Nevado Blanco, Marta Feito Rodríguez, Alejandro C. Briones
Publikováno v:
Journal of Allergy and Clinical Immunology. 141:1924-1927.e18