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

由 Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.
發表在 Am J Med Genet A (2016)

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

由 López-Rubio, Salvador, Chacon-Camacho, Oscar F., Matsui, Rodrigo, Guadarrama-Vallejo, Dalia, Astiazarán, Mirena C., Zenteno, Juan C.
發表在 Mol Vis (2018)

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

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

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

由 Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Villegas-Ruiz, Vanessa, Pelcastre-Luna, Erika, Uría-Gómez, Conrado E., Granillo-Alvarez, Mariella, Zenteno, Juan C.
發表在 Meta Gene (2013)

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

由 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
發表在 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...

由 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.
發表在 Mol Vis (2020)

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

由 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
發表在 Am J Case Rep (2019)

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

由 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.
發表在 Mol Genet Metab Rep (2019)

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

由 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.
發表在 Mol Genet Genomic Med (2019)