Evaluation of the imputation performance of the program IMPUTE in an admixed sample from Mexico City using several model designs

por Krithika, S, Valladares-Salgado, Adán, Peralta, Jesus, La Peña, Jorge Escobedo-de, Kumate-Rodríguez, Jesus, Cruz, Miguel, Parra, Esteban J
Publicado 2012

Clinical manifestations of four patients diagnosed with early-onset sarcoidosis or sarcoid-like syndrome

por Murias, Sara, Alcobendas, Rosa, Remesal, Agustin, Peralta, Jesus, Noval, Susana, Arostegui, Juan Ignacio, Rodriguez-Pena, Rebeca, Mendez, Ana, Merino, Rosa
Publicado 2014

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

por Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Publicado 2021

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

por Campos-Mollo, Ezequiel, López-Garrido, María-Pilar, Blanco-Marchite, Cristina, Garcia-Feijoo, Julián, Peralta, Jesús, Belmonte-Martínez, José, Ayuso, Carmen, Escribano, Julio
Publicado 2009

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

por Fernández-Alcalde, Celia, Nieves-Moreno, María, Noval, Susana, Peralta, Jesús M., Montaño, Victoria E. F., del Pozo, Ángela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2021

JBASE: Joint Bayesian Analysis of Subphenotypes and Epistasis

por Colak, Recep, Kim, TaeHyung, Kazan, Hilal, Oh, Yoomi, Cruz, Miguel, Valladares-Salgado, Adan, Peralta, Jesus, Escobedo, Jorge, Parra, Esteban J., Kim, Philip M., Goldenberg, Anna
Publicado 2016

Obesity is associated with the Arg389Gly ADRB1 but not with the Trp64Arg ADRB3 polymorphism in children from San Luis Potosí and León, México

por Aradillas-García, Celia, Cruz, Miguel, Pérez-Luque, Elva, Garay-Sevilla, María E., Malacara, Juan M., R, Aduna, Peralta, Jesús, Burguete-García, Ana, Alegría-Torres, Jorge A.
Publicado 2017

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

por 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
Publicado 2023