Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach
Fabian‐Morales, Gerardo E., Ordoñez‐Labastida, Vianey, Garcia‐Martínez, Froylan, Montes‐Almanza, Luis, Zenteno, Juan C.
Published in Molecular genetics & genomic medicine (01.10.2024)
Published in Molecular genetics & genomic medicine (01.10.2024)
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Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation
Pantoja-Melendez, Carlos A, Miranda-Duarte, Antonio, Roque-Ramirez, Bladimir, Zenteno, Juan C
Published in PloS one (19.01.2017)
Published in PloS one (19.01.2017)
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Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases
Ordoñez-Labastida, Vianey, Montes-Almanza, Luis, García-Martínez, Froylan, Zenteno, Juan C.
Published in Revista de investigacion clinica (2022)
Published in Revista de investigacion clinica (2022)
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Molecular and Phenotypic Characterization of Staphylococcus epidermidis Isolates from Healthy Conjunctiva and a Comparative Analysis with Isolates from Ocular Infection
Flores-Páez, Luis A, Zenteno, Juan C, Alcántar-Curiel, María D, Vargas-Mendoza, Carlos F, Rodríguez-Martínez, Sandra, Cancino-Diaz, Mario E, Jan-Roblero, Janet, Cancino-Diaz, Juan C
Published in PloS one (14.08.2015)
Published in PloS one (14.08.2015)
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Exogenous CFH Modulates Levels of Pro-Inflammatory Mediators to Prevent Oxidative Damage of Retinal Pigment Epithelial Cells with the At-Risk CFH Y402H Variant
Velazquez-Soto, Henry, Groman-Lupa, Sergio, Cruz-Aguilar, Marisa, Salazar, Alberto L., Zenteno, Juan C., Jimenez-Martinez, Maria C.
Published in Antioxidants (31.07.2023)
Published in Antioxidants (31.07.2023)
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Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing
Matías-Pérez, Diana, García-Montaño, Leopoldo A, Cruz-Aguilar, Marisa, García-Montalvo, Iván A, Nava-Valdéz, Jessica, Barragán-Arevalo, Tania, Villanueva-Mendoza, Cristina, Villarroel, Camilo E, Guadarrama-Vallejo, Clavel, la Cruz, Rocío Villafuerte-de, Chacón-Camacho, Oscar, Zenteno, Juan C
Published in Journal of human genetics (01.11.2018)
Published in Journal of human genetics (01.11.2018)
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Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
López-Rodríguez, Víctor R., Arce-González, Rocío, Martínez-Aguilar, Alan, Rodríguez-López, Carlos E., Groman-Lupa, Sergio, Neria-González, M. Isabel, Rodríguez-Uribe, Genaro, Zenteno, Juan C.
Published in Journal of ophthalmology (2024)
Published in Journal of ophthalmology (2024)
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
Fares-Taie, Lucas, Gerber, Sylvie, Tawara, Akihiko, Ramirez-Miranda, Arturo, Douet, Jean-Yves, Verdin, Hannah, Guilloux, Antoine, Zenteno, Juan C., Kondo, Hiroyuki, Moisset, Hugo, Passet, Bruno, Yamamoto, Ken, Iwai, Masaru, Tanaka, Toshihiro, Nakamura, Yusuke, Kimura, Wataru, Bole-Feysot, Christine, Vilotte, Marthe, Odent, Sylvie, Vilotte, Jean-Luc, Munnich, Arnold, Regnier, Alain, Chassaing, Nicolas, De Baere, Elfride, Raymond-Letron, Isabelle, Kaplan, Josseline, Calvas, Patrick, Roche, Olivier, Rozet, Jean-Michel
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire
Chacón-Camacho, Óscar F, Arce-González, Rocío, Zenteno, Juan C, Granillo, María T
Published in Boletin medico del Hospital Infantil de Mexico (2023)
Published in Boletin medico del Hospital Infantil de Mexico (2023)
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A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen
Crespí, Jaume, Buil, José A, Bassaganyas, Francisca, Vela-Segarra, José I, Díaz-Cascajosa, Jesús, Ayala-Ramírez, Raul, Zenteno, Juan C
Published in American journal of ophthalmology (01.08.2008)
Published in American journal of ophthalmology (01.08.2008)
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Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease
Campos-Garcia, Felix-Julian, Castillo-Espinola, Addy-Manuela, Medina-Escobedo, Carolina-Elizabeth, Zenteno, Juan, Lara-Riegos, Julio-Cesar, Rubio-Zapata, Hector, Cruz-Robles, David, Velazquez-Ibarra, Ana-Isabel
Published in Cardiogenetics (01.09.2022)
Published in Cardiogenetics (01.09.2022)
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Journal Article
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept
Dinculescu, Astra, Estreicher, Jackie, Zenteno, Juan C, Aleman, Tomas S, Schwartz, Sharon B, Huang, Wei Chieh, Roman, Alejandro J, Sumaroka, Alexander, Li, Qiuhong, Deng, Wen-Tao, Min, Seok-Hong, Chiodo, Vince A, Neeley, Andy, Liu, Xuan, Shu, Xinhua, Matias-Florentino, Margarita, Buentello-Volante, Beatriz, Boye, Sanford L, Cideciyan, Artur V, Hauswirth, William W, Jacobson, Samuel G
Published in Human gene therapy (01.04.2012)
Published in Human gene therapy (01.04.2012)
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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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Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
Kheir, Valeria, Cortés‐González, Vianney, Zenteno, Juan C., Schorderet, Daniel F.
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
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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
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Buentello-Volante, Beatriz, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui
Published in Human genetics (01.03.2014)
Published in Human genetics (01.03.2014)
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Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis
Villarroel, Camilo E., Zenteno, Juan C., Barragán-Arévalo, Tania, Leal-Anaya, Paula, Pérez-Muñoz, Estela, Frías-Soria, Christian L., López-Corella, Eduardo, Yokoyama, Emiy
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.07.2024)
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.07.2024)
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Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes
Zenteno, Juan C., Chacón-Camacho, Oscar F., Ordoñez-Labastida, Vianey, Miranda-Duarte, Antonio, Del Castillo, Camila, Nava, Jessica, Mendoza, Fatima, Montes-Almanza, Luis, Mora-Roldán, Germán, Gazarian, Karlen
Published in BioMed research international (2024)
Published in BioMed research international (2024)
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The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome
Berner, Daniel, Hoja, Ursula, Zenkel, Matthias, Ross, James Julian, Uebe, Steffen, Paoli, Daniela, Frezzotti, Paolo, Rautenbach, Robyn M, Ziskind, Ari, Williams, Susan E, Carmichael, Trevor R, Ramsay, Michele, Topouzis, Fotis, Chatzikyriakidou, Anthi, Lambropoulos, Alexandros, Sundaresan, Periasamy, Ayub, Humaira, Akhtar, Farah, Qamar, Raheel, Zenteno, Juan C, Cruz-Aguilar, Marisa, Astakhov, Yury S, Dubina, Michael, Wiggs, Janey, Ozaki, Mineo, Kruse, Friedrich E, Aung, Tin, Reis, André, Khor, Chiea Chuen, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula
Published in Human molecular genetics (01.08.2019)
Published in Human molecular genetics (01.08.2019)
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