Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability
Chacon‐Camacho, Oscar F., Arce‐Gonzalez, Rocio, Ordaz‐Robles, Thania, Perezpeña‐Diazconti, Mario, Nava‐Castañeda, Angel, Zenteno, Juan Carlos
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Journal Article
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
Acosta‐Fernández, Elizabeth, Zenteno, Juan C., Chacón‐Camacho, Oscar F., Peña‐Padilla, Christian, Bobadilla‐Morales, Lucina, Corona‐Rivera, Alfredo, Romo‐Huerta, Carmen O., Zepeda‐Romero, Luz C., López‐Marure, Eloy, Acosta‐León, Jorge, García‐Cruz, Diana, Maciel‐Cruz, Eric Jonathan, Corona‐Rivera, Jorge Román
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing
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, Dios Cuadras, Ulises, Chacón‐Camacho, Oscar F.
Published in Molecular genetics & genomic medicine (01.01.2020)
Published in Molecular genetics & genomic medicine (01.01.2020)
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Journal Article
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
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
Published in Molecular genetics & genomic medicine (01.05.2019)
Published in Molecular genetics & genomic medicine (01.05.2019)
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Journal Article
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants
Pérez‐Solórzano, Sofía, Chacón‐Camacho, Oscar F, Astiazarán, Mirena C, Ledesma‐Gil, Gerardo, Zenteno, Juan Carlos
Published in Clinical & experimental ophthalmology (01.12.2017)
Published in Clinical & experimental ophthalmology (01.12.2017)
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Journal Article
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome
Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Journal Article
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
Blackburn, Patrick R., Chacon‐Camacho, Oscar F., Ortiz‐González, Xilma R., Reyes, Mariana, Lopez‐Uriarte, Graciela A., Zarei, Shabnam, Bhoj, Elizabeth J., Perez‐Solorzano, Sofia, Vaubel, Rachael A., Murphree, Marine I., Nava, Jessica, Cortes‐Gonzalez, Vianney, Parisi, Joseph E., Villanueva‐Mendoza, Cristina, Tirado‐Torres, Iris G., Li, Dong, Klee, Eric W., Pichurin, Pavel N., Zenteno, Juan C.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
Chacón-Camacho, Oscar F., Granillo-Alvarez, Mariella, Ayala-Ramírez, Raul, Zenteno, Juan C.
Published in Experimental eye research (01.04.2013)
Published in Experimental eye research (01.04.2013)
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Journal Article
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus
Chacón-Camacho, Oscar F., Salgado-Medina, Acatzin, Alcaraz-Lares, Nayeli, López-Moreno, Daniel, Barragán-Arévalo, Tania, Nava-Castañeda, Angel, Rodríguez-Uribe, Genaro, Lieberman, Esther, Rodríguez-Cabrera, Lourdes, González-Del Angel, Ariadna, Borbolla, Ana María, Fernández-Hernández, Liliana, Graue-Hernández, Enrique O., Zenteno, Juan Carlos
Published in Gene (20.07.2019)
Published in Gene (20.07.2019)
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Journal Article
Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico
Chacon-Camacho, Oscar F, Rodriguez-Dennen, Fernando, Camacho-Molina, Alejandra, Rasmussen, Astrid, Alonso-Vilatela, Elisa, Zenteno, Juan C
Published in Clinical & experimental ophthalmology (01.04.2010)
Published in Clinical & experimental ophthalmology (01.04.2010)
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Journal Article
Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico
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.
Published in Molecular genetics and metabolism reports (01.12.2019)
Published in Molecular genetics and metabolism reports (01.12.2019)
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Journal Article
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence
Chacon-Camacho, Oscar F., Villegas-Ruiz, Vanessa, Buentello-Volante, Beatriz, Piña-Aguilar, Raul E., Peláez-González, Hugo, Ramírez, Magdalena, González-Rodríguez, Johanna, Zenteno, Juan Carlos
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case
Chacon-Camacho, Oscar F., Lopez-Martinez, Monica S., Vázquez, Johanna, Nava-Castañeda, Angel, Martin-Biasotti, Fernando, Piña-Aguilar, Raul E., Iñiguez-Soto, Marisol, Acosta-García, Job, Zenteno, Juan C.
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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Journal Article
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
Zenteno, Juan C., Arce-Gonzalez, Rocio, Matsui, Rodrigo, Lopez-Bolaños, Antonio, Montes, Luis, Martinez-Aguilar, Alan, Chacon-Camacho, Oscar F.
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2023)
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2023)
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Journal Article
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants
Chacon-Camacho, Oscar F., Xilotl-de Jesús, Nancy, Calderón-Martínez, Ernesto, Ordoñez-Labastida, Vianey, Neria-Gonzalez, M. Isabel, Villafuerte-de la Cruz, Rocío, Martinez-Rojas, Augusto, Zenteno, Juan Carlos
Published in Molecular genetics and genomics : MGG (01.12.2024)
Published in Molecular genetics and genomics : MGG (01.12.2024)
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Journal Article
A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Chacon‐Camacho, Oscar F., Ordaz‐Robles, Thania, Cid‐García, Marion A., Yepes‐Rodríguez, Olivia, Arce‐González, Rocio, Martínez‐Aguilar, Alan, Zenteno, Juan Carlos
Published in American journal of medical genetics. Part A (12.09.2024)
Published in American journal of medical genetics. Part A (12.09.2024)
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Journal Article
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature
Quiroz-Casian, Natalia, Chacon-Camacho, Oscar F, Barragan-Arevalo, Tania, Nava-Valdez, Jessica, Lieberman, Esther, Salgado-Medina, Acatzin, Navas, Alejandro, Graue-Hernandez, Enrique O, Zenteno, Juan C
Published in Cornea (01.09.2018)
Published in Cornea (01.09.2018)
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