Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome

Por Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.
Publicado no Am J Med Genet A (2016)

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation

Por López-Rubio, Salvador, Chacon-Camacho, Oscar F., Matsui, Rodrigo, Guadarrama-Vallejo, Dalia, Astiazarán, Mirena C., Zenteno, Juan C.
Publicado no Mol Vis (2018)

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 em 2014

Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome()

Por Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Villegas-Ruiz, Vanessa, Pelcastre-Luna, Erika, Uría-Gómez, Conrado E., Granillo-Alvarez, Mariella, Zenteno, Juan C.
Publicado no Meta Gene (2013)

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 no Mol Genet Genomic Med (2019)

Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutatio...

Por Cabral-Macias, Jesus, Garcia-Montaño, Leopoldo A., Pérezpeña-Díazconti, Mario, Aguilar, Marisa-Cruz, Garcia, Guillermo, Vencedor-Meraz, Carlos I., Graue-Hernandez, Enrique O., Chacón-Camacho, Oscar F., Zenteno, Juan C.
Publicado no Mol Vis (2020)

Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis

Por Córdoba, Andrea, Graue-Hernández, Enrique O., Navas, Alejandro, Chacon-Camacho, Oscar F., Zenteno, Juan C., Ramirez-Miranda, Arturo, Bermudez-Magner, Jose Antonio, Ordaz-Robles, Thania, Pérez-Solórzano, Sofia, Olivo-Payne, Andrew
Publicado no Am J Case Rep (2019)

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Por Campos-Garcia, Felix-Julian, Chacon-Camacho, Oscar F., Contreras-Capetillo, Silvina, Cruz-Aguilar, Marisa, Medina-Escobedo, Carolina E., Moreno-Graciano, Claudia M., Rodas, Agustín, Herrera-Perez, Luz del Alba, Zenteno, Juan C.
Publicado no Mol Genet Metab Rep (2019)

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

Por Zenteno, Juan C., García‐Montaño, Leopoldo A., Cruz‐Aguilar, Marisa, Ronquillo, Josué, Rodas‐Serrano, Agustín, Aguilar‐Castul, Luis, Matsui, Rodrigo, Vencedor‐Meraz, Carlos I., Arce‐González, Rocío, Graue‐Wiechers, Federico, Gutiérrez‐Paz, Mario, Urrea‐Victoria, Tatiana, de Dios Cuadras, Ulises, Chacón‐Camacho, Oscar F.
Publicado no Mol Genet Genomic Med (2019)