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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
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 Boletín médico del Hospital Infantil de México (Spanish edition) (2023)
Published in Boletín médico del Hospital Infantil de México (Spanish edition) (2023)
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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 (01.01.2025)
Published in American journal of medical genetics. Part A (01.01.2025)
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Journal Article
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
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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Journal Article
A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family
Chacon-Camacho, Oscar Francisco, Flores-Lagunes, Luis Leonardo, Small, Kent W, Udar, Nitin, Udar, Uma, Diaz, Amber, Arce-González, Rocío, Molina-Garay, Carolina, Martínez-Aguilar, Alan, Montes-Almanza, Luis, Garcia-Martinez, Froylan, Gudiño, Adriana, Matsui-Serrano, Rodrigo, Fest-Parra, Scarlett, Alaez-Verson, Carmen, Shaya, Fadi, Zenteno, Juan Carlos
Published in Molecular vision (2024)
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Published in Molecular vision (2024)
Journal Article
A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers
Arce-González, Rocío, Chacon-Camacho, Oscar Francisco, Ordoñez-Labastida, Vianey, Graue-Hernandez, Enrique O., Navas-Pérez, Alejandro, Zenteno, Juan Carlos
Published in International ophthalmology (01.03.2023)
Published in International ophthalmology (01.03.2023)
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Journal Article
Presentación
Rodríguez Bolufé, María Olga, González de Arce Arzave, Rocío Betzabeé
Published in Nierika : revista de estudios de arte (05.01.2024)
Published in Nierika : revista de estudios de arte (05.01.2024)
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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
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females
Arce-Gonzalez, Rocio, Chacon-Camacho, Oscar F., Navas-Perez, Alejandro, Gonzalez-Gonzalez, María C., Martinez-Aguilar, Alan, Zenteno, Juan Carlos
Published in Ophthalmic genetics (01.04.2022)
Published in Ophthalmic genetics (01.04.2022)
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Journal Article
Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome
Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Villegas-Ruiz, Vanessa, Pelcastre-Luna, Erika, Uría-Gómez, Conrado E., Granillo-Alvarez, Mariella, Zenteno, Juan C.
Published in Meta Gene (01.12.2014)
Published in Meta Gene (01.12.2014)
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Journal Article
Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion
Chacón-Camacho, Oscar, Arce-Gonzalez, Rocio, Granillo-Alvarez, Mariella, Flores-Limas, Sanjuanita, Ramírez, Magdalena, Zenteno, Juan C.
Published in Ophthalmic genetics (01.12.2013)
Published in Ophthalmic genetics (01.12.2013)
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Journal Article
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females
Arce-Gonzalez, Rocio, Chacon-Camacho, Oscar F., Navas-Perez, Alejandro, Gonzalez-Gonzalez, María C., Martinez-Aguilar, Alan, Zenteno, Juan Carlos
Published in Ophthalmic Genetics (04.03.2022)
Published in Ophthalmic Genetics (04.03.2022)
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Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion
Chacón-Camacho, Oscar, Arce-Gonzalez, Rocio, Granillo-Alvarez, Mariella, Flores-Limas, Sanjuanita, Ramírez, Magdalena, Zenteno, Juan C.
Published in Ophthalmic Genetics (01.12.2013)
Published in Ophthalmic Genetics (01.12.2013)
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