The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic...

por Guadarrama-Vallejo, Dalia, Miranda-Duarte, Antonio, Zenteno, Juan Carlos
Publicado 2013

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations

por Zenteno, Juan Carlos, Ruiz, Gabriela, Pérez-Cano, Hector J., Camargo, Mayra
Publicado 2008

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex

por Zenteno, Juan Carlos, Buentello-Volante, Beatriz, Quiroz-González, Miguel A., Quiroz-Reyes, Miguel A.
Publicado 2009

Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas

por Garfias, Yonathan, Navas, Alejandro, Pérez-Cano, Hector J., Quevedo, Jonathan, Villalvazo, Leonardo, Zenteno, Juan Carlos
Publicado 2008

Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration

por Kumari, Asha, Ayala-Ramirez, Raul, Zenteno, Juan Carlos, Huffman, Kristyn, Sasik, Roman, Ayyagari, Radha, Borooah, Shyamanga
Publicado 2022

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

por Piña-Aguilar, Raul E., Vera-Loaiza, Aurea, Chacón-Camacho, Oscar F., Zenteno, Juan Carlos, Nuñez-Orozco, Lilia, Santillán-Hernández, Yuritzi
Publicado 2014

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

por Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, Chacón-Camacho, Oscar Francisco, Astiazarán, Mirena C, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O.
Publicado 2023

CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans

por Contreras, Alejandra V., Zenteno, Juan Carlos, Fernández-López, Juan Carlos, Rodríguez-Corona, Ulises, Falfán-Valencia, Ramcés, Sebastian, Leticia, Morales, Fabiola, Ochoa-Contreras, Daniel, Carnevale, Alessandra, Silva-Zolezzi, Irma
Publicado 2014

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

por Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker, Martin, Zenteno, Juan Carlos
Publicado 2019

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

por Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Manir
Publicado 2013

Significant Association Between Variant in SGCD and Age-Related Macular Degeneration

por Perez-Ortiz, Andric Christopher, Luna-Angulo, Alexandra, Zenteno, Juan Carlos, Rendon, Alvaro, Cortes-Ballinas, Liliana Guadalupe, Jimenez-Collado, David, Antonio-Aguirre, Bani, Peralta-Ildefonso, Martha Janneth, Ramírez, Israel, Jacob-Kuttothara, Stefany, Estrada-Mena, Francisco Javier
Publicado 2018

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

por Ali, Manir, Buentello-Volante, Beatriz, McKibbin, Martin, Rocha-Medina, J. Alberto, Fernandez-Fuentes, Narcis, Koga-Nakamura, Wilson, Ashiq, Aruna, Khan, Kamron, Booth, Adam P., Williams, Grange, Raashid, Yasmin, Jafri, Hussain, Rice, Aine, Inglehearn, Chris F., Zenteno, Juan Carlos
Publicado 2010