Search Results - "Gómez‐Cano, María de los Ángeles"

MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia by Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Gómez‐Cano, María de los Ángeles, Martínez de Aragón, Ana, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco

“…We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and…”
Get full text

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus by González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Villoldo-Fernández, Natalia, del Hierro, Almudena, Boto, Ana, Guerrero-Carretero, Marta, Nieves-Moreno, María, Arruti, Natalia, Rodríguez-Solana, Patricia, Mena, Rocío, Rodríguez-Jiménez, Carmen, Rosa-Pérez, Irene, Acal, Juan Carlos, Blasco, Joana, Naranjo-Castresana, Marta, Ruz-Caracuel, Beatriz, Montaño, Victoria E. F, Ortega Patrón, Cristina, Rubio-Martín, M. Esther, García-Fernández, Laura, Rikeros-Orozco, Emi, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena

“…Keratoconus is a corneal dystrophy that is one of the main causes of corneal transplantation and for which there is currently no effective treatment for all…”
Get full text

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts by Rodríguez-Solana, Patricia, Arruti, Natalia, Nieves-Moreno, María, Mena, Rocío, Rodríguez-Jiménez, Carmen, Guerrero-Carretero, Marta, Acal, Juan Carlos, Blasco, Joana, Peralta, Jesús M, Del Pozo, Ángela, Montaño, Victoria E F, Dios-Blázquez, Lucía De, Fernández-Alcalde, Celia, González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena

“…Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other…”
Get full text

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families by Soengas-Gonda, Emma, Pérez de la Fuente, Rubén, Arteche-López, Ana, Gómez-Cano, María de Los Ángeles, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, José Miguel, Mayo de Andrés, Sonia, Sánchez-Calvín, María Teresa, Gómez-Rodríguez, María José, Sierra Tomillo, Olalla, Juarez Rufian, Alexandra, Ramos Gomez, Patricia, Herrero-Forte, Clara, Fenollar-Cortés, Maria, Cotarelo-Pérez, Carmen, García Ron, Adrián, Pérez Rodríguez, Olga, Oancea-Ionescu, Raluca, Moreno-García, Marta

“…Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the gene. Clinically, it is mainly…”
Get more information

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia by Sánchez-Cazorla, Eloísa, González-Atienza, Carmen, López-Vázquez, Ana, Arruti, Natalia, Nieves-Moreno, María, Noval, Susana, Mena, Rocío, Rodríguez-Jiménez, Carmen, Rodríguez-Solana, Patricia, González-Iglesias, Eva, Guerrero-Carretero, Marta, D’Anna Mardero, Oriana, Coca-Robinot, Javier, Acal, Juan Carlos, Blasco, Joana, Castañeda, Carlos, Fraile Maya, Jesús, Del Pozo, Ángela, Gómez-Pozo, María V, Montaño, Victoria E. F, Dios-Blázquez, Lucía De, Rodríguez-Antolín, Carlos, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Vallespín, Elena

“…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…”
Get full text

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia by Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Gómez-Cano, María de Los Ángeles, Martínez de Aragón, Ana, Martín-Hernández, Elena, Martínez-Azorín, Francisco

Get full text