Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Victoria E. F. Montaño"'
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:
Eva González-Iglesias, Ana López-Vázquez, Susana Noval, María Nieves-Moreno, María Granados-Fernández, Natalia Arruti, Irene Rosa-Pérez, Marta Pacio-Míguez, Victoria E. F. Montaño, Patricia Rodríguez-Solana, Angela del Pozo, Fernando Santos-Simarro, Elena Vallespín
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4233 (2022)
Early-onset high myopia (EoHM) is a disease that causes a spherical refraction error of ≥−6 diopters before 10 years of age, with potential multiple ocular complications. In this article, we report a clinical and genetic study of 43 families with
Externí odkaz:
https://doaj.org/article/ecc2b3ab61bd4baa883e3a816f5ec27e