Zobrazeno 1 - 10 of 32 pro vyhledávání: '"Barragán-Arévalo T"'
1
Akademický článek
Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
Autor: Villarroel CE; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico., Barragán-Arévalo T; Genetics Department, Hospital Infantil de México 'Federico Gómez', Mexico City, Mexico., Leal-Anaya P; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Pérez-Muñoz E; Department of Pathology, National Institute of Pediatrics, Mexico City, Mexico., Frías-Soria CL; Department of Pathology, National Institute of Pediatrics, Mexico City, Mexico., López-Corella E; Department of Pathology, National Institute of Pediatrics, Mexico City, Mexico., Yokoyama E; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico. eyr75@hotmail.com.
Publikováno v: Reproductive sciences (Thousand Oaks, Calif.) [Reprod Sci] 2024 Jul; Vol. 31 (7), pp. 1861-1867. Date of Electronic Publication: 2024 Mar 06.
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2
Akademický článek
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome.
Autor: Ruiz-Chavolla D; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico., Barragán-Arévalo T; Genetics Department, Hospital Infantil de México, Federico Gómez, Mexico City, Mexico., Cortes-Muñoz D; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico., Sánchez-Ruiz J; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico., Zenteno JC; Genetics Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico.; Biochemistry Department, faculty of Medicine, UNAM, Mexico City, Mexico., Ledesma-Gil G; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico.
Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 299-302. Date of Electronic Publication: 2024 Mar 25.
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3
Akademický článek
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy.
Autor: Leal-Rodríguez R; Retina Department, Instituto de Enfermedades y Cirugía Ocular (IECO), García Ginerés, Mérida Yucatán., Barragán-Arévalo T; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana'., Pérez-Torres A; Cell and Tissue Biology Department., Giraldo-Gómez DM; Cell and Tissue Biology Department.; Microscopy Core Facility., Zenteno JC; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana'.; Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico.
Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2023 Apr 01; Vol. 32 (2), pp. 62-64. Date of Electronic Publication: 2023 Feb 02.
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4
Report
First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations.
Autor: Corona-Rivera JR; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico., López-Pérez LG; Service of Genetics, Hospital of Pediatrics, UMAE, Western National Medical Center, Mexican Social Security Institute (IMSS), Guadalajara, Mexico., Yokoyama-Rebollar E; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Villarroel CE; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Barragán-Arévalo T; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Montes-Almanza LÁ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zepeda-Romero LC; Service of Ophthalmology, Division of Pediatrics, 'Fray Antonio Alcalde' Civil Hospital of Guadalajara, Guadalajara, Mexico., Morales-Domínguez GE; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Peña-Padilla C; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Bobadilla-Morales L; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico., Corona-Rivera A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.
Publikováno v: Molecular syndromology [Mol Syndromol] 2023 Apr; Vol. 14 (2), pp. 143-151. Date of Electronic Publication: 2022 Dec 16.
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5
Akademický článek
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6
Akademický článek
[Combined immunodeficiency due to DOCK8 deficiency. State of the art].
Autor: Liquidano-Pérez E; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México., Maza-Ramos G; The Mayo Clinics Care Network, Médica Sur, Ciudad de México, México., Yamazaki-Nakashimada MA; Instituto Nacional de Pediatría, Servicio de Inmunología, Ciudad de México, México., Barragán-Arévalo T; Fundación de Asistencia Privada, Instituto de Oftalmología Conde de Valenciana, Departamento de Genética, Ciudad de México, México., Lugo-Reyes SO; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México., Scheffler-Mendoza S; Instituto Nacional de Pediatría, Servicio de Inmunología, Ciudad de México, México., Espinosa-Padilla SE; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México., González-Serrano ME; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México. megpetite@gmail.com.
Publikováno v: Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) [Rev Alerg Mex] 2022 Jul 01; Vol. 69 (1), pp. 31-47. Date of Electronic Publication: 2022 Jul 01.
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7
Editorial & Opinion
Lymphomatoid granulomatosis in a patient with DOCK8 deficiency.
Autor: Liquidano-Perez E; Clinical Immunology Service, National Institute of Pediatrics, Mexico City, Mexico., Alva-Chaire ADC; Pneumology and Thorax Surgery Department, National Institute of Pediatrics, Mexico City, Mexico., Yamazaki-Nakashimada MA; Clinical Immunology Service, National Institute of Pediatrics, Mexico City, Mexico., Pesantez Abril ÁA; Pneumology and Thorax Surgery Department, National Institute of Pediatrics, Mexico City, Mexico., Solorzano Morales SA; Radiology Department, National Institute of Pediatrics, Mexico City, Mexico., Ramírez Ristori AG; Pathology Department, National Institute of Pediatrics, Mexico City, Mexico., Barragán Arévalo T; Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Gonzalez-Serrano ME; Immunodeficiency Research Unit, National Institute of Pediatrics, Mexico City, Mexico., Scheffler-Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Mexico City, Mexico., Rodríguez-Jurado R; Pneumology and Thorax Surgery Department, National Institute of Pediatrics, Mexico City, Mexico.
Publikováno v: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2022 Jun; Vol. 33 (6), pp. e13804.
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8
Akademický článek
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
Autor: Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico; Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Estado de México, Mexico., Barragán-Arévalo T; Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico., Villarroel CE; Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico., Almanza-Monterrubio M; Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico; Department of Strabismus, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address: jczenteno@institutodeoftalmologia.org.
Publikováno v: European journal of medical genetics [Eur J Med Genet] 2020 May; Vol. 63 (5), pp. 103877. Date of Electronic Publication: 2020 Feb 03.
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9
Akademický článek
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.
Autor: Chacón-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Salgado-Medina A; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Alcaraz-Lares N; Department of Orbit and Oculoplastics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., López-Moreno D; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Barragán-Arévalo T; Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Nava-Castañeda A; Department of Orbit and Oculoplastics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Rodríguez-Uribe G; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Lieberman E; Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Rodríguez-Cabrera L; Department of Orbit and Oculoplastics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., González-Del Angel A; Molecular Biology Laboratory, Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Borbolla AM; Department of Ophthalmology, Instituto Nacional de Pediatría, Mexico City, Mexico., Fernández-Hernández L; Molecular Biology Laboratory, Department of Genetics, Instituto Nacional de Pediatría, Mexico City, Mexico., Graue-Hernández EO; Department of Cornea, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address: jczenteno@institutodeoftalmologia.org.
Publikováno v: Gene [Gene] 2019 Jul 20; Vol. 706, pp. 62-68. Date of Electronic Publication: 2019 Apr 29.
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10
Akademický článek
Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature.
Autor: Ghiselli, Sara1 (AUTHOR) g.zambonini@ausl.pc.it, Parmeggiani, Giulia2 (AUTHOR) giulia.parmeggiani@auslromagna.it, Zambonini, Giulia1 (AUTHOR) d.cuda@ausl.pc.it, Cuda, Domenico1,3 (AUTHOR)
Publikováno v: Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1500. 21p.
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