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

Autor: Macriz-Romero N; Department of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca #14, Colonia Obrera, Cuauhtémoc, 06800, Mexico City, Mexico., Vera-Duarte GR; Department of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca #14, Colonia Obrera, Cuauhtémoc, 06800, Mexico City, Mexico., Guerrero-Becerril J; Department of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca #14, Colonia Obrera, Cuauhtémoc, 06800, Mexico City, Mexico., Chacón-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Iztacala Faculty of Superior Studies, National Autonomous University of Mexico (UNAM), Mexico City, Mexico., Astiazarán MC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Biochemistry Department, Faculty Medicine, National Autonomous University of Mexico, Mexico City, Mexico.; Rare Diseases Diagnostic Unit, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico., Graue-Hernandez EO; Department of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca #14, Colonia Obrera, Cuauhtémoc, 06800, Mexico City, Mexico. egraueh@gmail.com.

Publikováno v: International ophthalmology [Int Ophthalmol] 2023 Oct; Vol. 43 (10), pp. 3659-3665. Date of Electronic Publication: 2023 Aug 05.

Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.

Autor: Paz-Ramírez M; Genetics Department, Hospital Infantil de México Federico Gómez., Muñoz-Martínez LB; Genetics Department, Hospital Infantil de México Federico Gómez., Morales-Jiménez AB; Genetics Department, Hospital Infantil de México Federico Gómez., Morán-Barroso VF; Servicio de Genética, Hospital General de México Dr. Eduardo Liceaga., García-Delgado C; Genetics Department, Hospital Infantil de México Federico Gómez., Azotla-Vilchis CN; Servicio de Genética, Hospital General de México Dr. Eduardo Liceaga., Márquez-Quiroz LC; Laboratorio Genos Médica., Astiazarán MC; Genetics Department, Hospital Infantil de México Federico Gómez.; Instituto de Oftalmología Conde de Valenciana, Centro Médico ABC Campus Santa Fe, Mexico City, Mexico.

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2022 Apr 01; Vol. 31 (2), pp. 94-97.

Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.

Autor: Astiazarán MC; Research Unit, Genetics Department, Institute of Ophthalmology, 'Conde de Valenciana', Mexico City, Mexico.; General Ophthalmology Department, Fundación Hospital Nuestra Señora de la Luz, IAP, Mexico City, Mexico., García-Montaño LA; Research Unit, Genetics Department, Institute of Ophthalmology, 'Conde de Valenciana', Mexico City, Mexico., Sánchez-Moreno F; General Ophthalmology Department, Fundación Hospital Nuestra Señora de la Luz, IAP, Mexico City, Mexico., Matiz-Moreno H; Anterior Segment Department, Institute of Ophthalmology, 'Conde de Valenciana', Mexico City, Mexico., Zenteno JC; Research Unit, Genetics Department, Institute of Ophthalmology, 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2637-2645. Date of Electronic Publication: 2018 Nov 18.

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

Autor: Astiazarán MC; 1 Research Unit, Genetics Department, Institute of Ophthalmology , 'Conde de Valenciana,' Mexico City, Mexico ., Cervantes-Sodi M; 2 Departamento Clínico de Genética Médica, Hospital de Pediatría , Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico ., Rebolledo-Enríquez E; 3 Institute of Ophthalmology , 'Conde de Valenciana,' Mexico City, Mexico ., Chacón-Camacho O; 1 Research Unit, Genetics Department, Institute of Ophthalmology , 'Conde de Valenciana,' Mexico City, Mexico ., Villegas V; 1 Research Unit, Genetics Department, Institute of Ophthalmology , 'Conde de Valenciana,' Mexico City, Mexico ., Zenteno JC; 1 Research Unit, Genetics Department, Institute of Ophthalmology , 'Conde de Valenciana,' Mexico City, Mexico .; 4 Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico , Mexico City, Mexico .

Publikováno v: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2017 Dec; Vol. 21 (12), pp. 742-746. Date of Electronic Publication: 2017 Nov 13.