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Page 1
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti MJ, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon E, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: medina torres ea. medRxiv [Preprint]. 2024 May 14:2024.05.13.24307299. doi: 10.1101/2024.05.13.24307299. medRxiv. 2024. PMID: 38798393 Free PMC article. Preprint.
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.
Castano-Jaramillo LM, Larrauri FR, Scheffler-Mendoza SC, Gutierrez-Hernandez A, Ogando JCB, Colin P, Cisneros MO, Rajme-López S, Medina-Torres EA, Ruiz LB, Rodriguez-Lozano AL, Padilla SEE, Yamazaki-Nakashimada MA, Reyes SOL. Castano-Jaramillo LM, et al. Among authors: medina torres ea. J Genet. 2023;102:53. J Genet. 2023. PMID: 38073170 Free article.
Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
Vásquez-Echeverri E, Yamazaki-Nakashimada MA, Venegas Montoya E, Scheffler Mendoza SC, Castano-Jaramillo LM, Medina-Torres EA, González-Serrano ME, Espinosa-Navarro M, Bustamante Ogando JC, González-Villarreal MG, Ortega Cisneros M, Valencia Mayoral PF, Consuelo Sanchez A, Varela-Fascinetto G, Ramírez-Uribe RMN, Salazar Gálvez Y, Bonifaz Alonzo LC, Fuentes-Pananá EM, Gómez Hernández N, Rojas Maruri CM, Casanova JL, Espinosa-Padilla SE, Staines Boone AT, López-Velázquez G, Boisson B, Lugo Reyes SO. Vásquez-Echeverri E, et al. Among authors: medina torres ea. J Allergy Clin Immunol Pract. 2023 Apr;11(4):1261-1280.e8. doi: 10.1016/j.jaip.2022.12.045. Epub 2023 Jan 25. J Allergy Clin Immunol Pract. 2023. PMID: 36708766 Free PMC article. Review.
Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis.
Lugo Reyes SO, González Garay A, González Bobadilla NY, Rivera Lizárraga DA, Madrigal Paz AC, Medina-Torres EA, Álvarez Cardona A, Galindo Ortega JL, Solís Galicia C, Espinosa-Padilla SE, Murata C. Lugo Reyes SO, et al. Among authors: medina torres ea. J Clin Immunol. 2023 Apr;43(3):578-584. doi: 10.1007/s10875-022-01391-6. Epub 2022 Nov 16. J Clin Immunol. 2023. PMID: 36385358
Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples.
Lugo Reyes SO, Solórzano Suárez A, Scheffler Mendoza SC, Xóchihua Díaz L, González Serrano ME, López Herrera G, Medina-Torres EA, Cruz Ugalde CI, Olguín-Calderón D, Berrón Ruiz L, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Murata C. Lugo Reyes SO, et al. Among authors: medina torres ea. AIDS. 2022 Dec 1;36(15):2121-2128. doi: 10.1097/QAD.0000000000003367. Epub 2022 Aug 23. AIDS. 2022. PMID: 36382434
Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility.
Lopez-Rivera DO, Castano-Jaramillo LM, Yamazaki-Nakashimada MA, Ramirez Uribe RMN, Corcuera Delgado CT, Ignorosa-Arellano KR, Medina-Torres EA, Berrón Ruiz L, Espinosa-Padilla SE, Scheffler-Mendoza SC, López-Velázquez G, Cruz-Munoz ME, Lugo Reyes SO. Lopez-Rivera DO, et al. Among authors: medina torres ea. Front Immunol. 2022 Sep 27;13:959733. doi: 10.3389/fimmu.2022.959733. eCollection 2022. Front Immunol. 2022. PMID: 36238298 Free PMC article. Review.
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña AK, Yamazaki Nakashimada M, León Lara X, Mendieta Flores E, Nuñez Núñez ME, Lona-Reyes JC, Hernández Nieto L, Ramírez Vázquez MG, Barroso Santos J, López Iñiguez Á, González Y, Torres M, Lezana Fernández JL, Román Montes CM, Medina-Torres EA, González Serrano E, Bustamante Ogando JC, Lugo Reyes S, Zavaleta Martínez O, Staines Boone AT, Venegas Montoya E, Aguilar Gómez NE, Soudeé C, Jouanguy E, Puel A, Boisson-Dupuis S, Pedraza Sánchez S, Casanova JL, Espinosa Rosales F, Espinosa Padilla S, Bustamante J, Blancas Galicia L. Peñafiel Vicuña AK, et al. Among authors: medina torres ea. J Clin Immunol. 2023 Jan;43(1):123-135. doi: 10.1007/s10875-022-01357-8. Epub 2022 Aug 31. J Clin Immunol. 2023. PMID: 36044171 Free PMC article.
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Velez-Tirado N, Yamazaki-Nakashimada MA, Lopez Valentín E, Partida-Gaytan A, Scheffler-Mendoza SC, Chaia Semerena GM, Alvarez-Cardona A, Suárez Gutiérrez MA, Medina Torres EA, Baeza Capetillo P, Hirschmugl T, Garncarz W, Espinosa-Padilla SE, Aguirre Hernández J, Klein C, Boztug K, Lugo Reyes SO. Velez-Tirado N, et al. Among authors: medina torres ea. Scand J Immunol. 2022 Apr;95(4):e13136. doi: 10.1111/sji.13136. Epub 2022 Jan 19. Scand J Immunol. 2022. PMID: 34964150 Free article.
Microbiota Signals during the Neonatal Period Forge Life-Long Immune Responses.
Phillips-Farfán B, Gómez-Chávez F, Medina-Torres EA, Vargas-Villavicencio JA, Carvajal-Aguilera K, Camacho L. Phillips-Farfán B, et al. Among authors: medina torres ea. Int J Mol Sci. 2021 Jul 29;22(15):8162. doi: 10.3390/ijms22158162. Int J Mol Sci. 2021. PMID: 34360926 Free PMC article. Review.
COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.
Castano-Jaramillo LM, Yamazaki-Nakashimada MA, O'Farrill-Romanillos PM, Muzquiz Zermeño D, Scheffler Mendoza SC, Venegas Montoya E, García Campos JA, Sánchez-Sánchez LM, Gámez González LB, Ramírez López JM, Bustamante Ogando JC, Vásquez-Echeverri E, Medina Torres EA, Lopez-Herrera G, Blancas Galicia L, Berrón Ruiz L, Staines-Boone AT, Espinosa-Padilla SE, Segura Mendez NH, Lugo Reyes SO. Castano-Jaramillo LM, et al. Among authors: medina torres ea. J Clin Immunol. 2021 Oct;41(7):1463-1478. doi: 10.1007/s10875-021-01077-5. Epub 2021 Jun 10. J Clin Immunol. 2021. PMID: 34114122 Free PMC article.
17 results