Search Results - "Chacón-Camacho, Oscar" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes

Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes

by 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)

Get full text

Journal Article

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

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

by 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
Published in Molecular vision (2020)

Get full text

Journal Article

Newborn transient patterned hyperpigmentation and anophthalmia

Newborn transient patterned hyperpigmentation and anophthalmia

by Chacón Camacho, Oscar F, Arce-González, Rocío, Rodríguez Uribe, Genaro
Published in Boletin medico del Hospital Infantil de Mexico (01.05.2020)

Get more information

Journal Article

Familial Hypercholesterolemia: Update and Review

Familial Hypercholesterolemia: Update and Review

by Chacón-Camacho, Oscar Francisco, Pozo-Molina, Glustein, Méndez-Catalá, Claudia Fabiola, Reyes-Reali, Julia, Méndez-Cruz, René, Zenteno, Juan Carlos
Published in Endocrine, metabolic & immune disorders drug targets (01.02.2022)

Get more information

Journal Article

Genetic Aspects of Glaucoma: An Updated Review

Genetic Aspects of Glaucoma: An Updated Review

by Francisco Chacon-Camacho, Oscar, Arce-Gonzalez, Rocio, Sanchez-de la Rosa, Fernanda, Urióstegui-Rojas, Andrés, Enriqueta Hofmann-Blancas, María, Mata-Flores, Felipe, Carlos Zenteno, Juan
Published in Current molecular medicine (01.10.2024)

Get more information

Journal Article

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

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

by Nuñez-Orozco, Lilia, Zenteno, J. C., Chacon-Camacho, O. F., Vera-Loaiza, Aurea, Piña-Aguilar, Raul E., Santillán-Hernández, Yuritzi
Published in Case reports in neurological medicine (01.01.2014)

Get full text

Journal Article

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

by Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, Chacón-Camacho, Oscar Francisco, Astiazarán, Mirena C, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O.
Published in International ophthalmology (01.10.2023)

Get full text

Journal Article

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

by 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)

Get full text

Journal Article

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

by 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)

Get full text

Journal Article

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

by Pérez‐Solórzano, Sofía, Chacón‐Camacho, Oscar F, Astiazarán, Mirena C, Ledesma‐Gil, Gerardo, Zenteno, Juan Carlos
Published in Clinical & experimental ophthalmology (01.12.2017)

Get full text

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

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

by Chacón-Camacho, Oscar F., Granillo-Alvarez, Mariella, Ayala-Ramírez, Raul, Zenteno, Juan C.
Published in Experimental eye research (01.04.2013)

Get full text

Journal Article

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome

by Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G, Rivera-de la Parra, David, Spokes, David M, James, Nigel, Toomes, Carmel, Inglehearn, Chris F, Ali, Manir
Published in Cornea (01.03.2014)

Get more information

Journal Article

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

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

by 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)

Get full text

Journal Article

Review and update on the molecular basis of Leber congenital amaurosis

Review and update on the molecular basis of Leber congenital amaurosis

by Chacon-Camacho, Oscar Francisco, Zenteno, Juan Carlos
Published in World journal of clinical cases (16.02.2015)

Get full text

Journal Article

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

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

by 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)

Get full text

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

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

by 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)

Get full text

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

Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire

by Chacón-Camacho, Óscar F, Arce-González, Rocío, Zenteno, Juan C, Granillo, María T
Published in Boletin medico del Hospital Infantil de Mexico (2023)

Get full text

Journal Article

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

by 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)

Get full text

Journal Article

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome

by Astiazarán, Mirena C, Cervantes-Sodi, María, Rebolledo-Enríquez, Erick, Chacón-Camacho, Oscar, Villegas, Vanessa, Zenteno, Juan Carlos
Published in Genetic testing and molecular biomarkers (01.12.2017)

Get more information

Journal Article

CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel

CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel

by Oliva-Biénzobas, Valeria, Navas, Alejandro, C Astiazarán, Mirena, Chacón-Camacho, Oscar Francisco, A Bermúdez-Magner, Jose, Takane, Mariana, Graue-Hernández, Enrique, Zenteno, Juan Carlos
Published in Cornea (01.10.2017)

Get more information

Journal Article