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23 results

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Page 1
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: ibarra ramirez m. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis.
Salinas-Torres VM, Gallardo-Blanco HL, Salinas-Torres RA, Cerda-Flores RM, Lugo-Trampe JJ, Villarreal-Martínez DZ, Ibarra-Ramírez M, Martínez de Villarreal LE. Salinas-Torres VM, et al. Mol Genet Genomic Med. 2020 May;8(5):e1176. doi: 10.1002/mgg3.1176. Epub 2020 Mar 12. Mol Genet Genomic Med. 2020. PMID: 32163230 Free PMC article.
Bilateral plantar plaques in a patient with Keratitis-ichthyosis-deafness syndrome.
Kubelis-López DE, Ibarra-Ramírez M, Calvo-Anguiano G, Figueroa-Morales AL, Reyna-Rodriguez IL, Ocampo-Candiani J, Martínez-Garza LE, Alba-Rojas E. Kubelis-López DE, et al. Australas J Dermatol. 2020 Nov;61(4):e458-e459. doi: 10.1111/ajd.13369. Epub 2020 Jul 6. Australas J Dermatol. 2020. PMID: 32627836 No abstract available.
Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients.
Villarreal-Martínez A, Vázquez-Martínez OT, Martínez-de-Villarreal LE, Garay-Mendoza D, Rodríguez-Vivian C, Ocampo-Candiani J, De La Rosa-Marbán E, Ibarra-Ramírez M. Villarreal-Martínez A, et al. Indian J Dermatol Venereol Leprol. 2018 Jul-Aug;84(4):446-447. doi: 10.4103/ijdvl.IJDVL_414_17. Indian J Dermatol Venereol Leprol. 2018. PMID: 29770782 Free article. No abstract available.
Detection of Turner Syndrome by quantitative PCR of SHOX and VAMP7 genes.
Ibarra-Ramírez M, Zamudio-Osuna MJ, Campos-Acevedo LD, Gallardo-Blanco HL, Cerda-Flores RM, Rodríguez-Sánchez IP, Martínez-de-Villarreal LE. Ibarra-Ramírez M, et al. Genet Test Mol Biomarkers. 2015 Feb;19(2):88-92. doi: 10.1089/gtmb.2014.0236. Epub 2014 Dec 23. Genet Test Mol Biomarkers. 2015. PMID: 25535777
Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Newborns in Northeast Mexico.
Villarreal-Martínez L, Torres-Sánchez KA, Ibarra-Ramírez M, Martínez-Garza LE, Villarreal-Martínez DZ, Viera DAG, Herrera MDCR, O-Castillo M, Bautista-Gómez AJ, Martínez AG, de la Garza JFM. Villarreal-Martínez L, et al. Among authors: ibarra ramirez m. Am J Perinatol. 2022 Dec 29. doi: 10.1055/a-1926-0075. Online ahead of print. Am J Perinatol. 2022. PMID: 35977713 Free article.
Gene expression in peripheral blood in treatment-free major depression.
Cuellar-Barboza AB, Sánchez-Ruiz JA, Rodriguez-Sanchez IP, González S, Calvo G, Lugo J, Costilla-Esquivel A, Martínez LE, Ibarra-Ramirez M. Cuellar-Barboza AB, et al. Acta Neuropsychiatr. 2020 Feb 10:1-10. doi: 10.1017/neu.2020.5. Online ahead of print. Acta Neuropsychiatr. 2020. PMID: 32039744
How Does Comprehensive Care Impact Life of Pediatric Patients With Hemophilia? Results From a Center in a Developing Country.
Villarreal-Martínez L, Meléndez-Aguirre A, Cantú-Moreno M, Garay-Mendoza D, Garza JA, Ibarra-Ramírez M, Quiroga-Treviño M, Pope-Salazar SE, Velasco-Ruiz I. Villarreal-Martínez L, et al. J Pediatr Hematol Oncol. 2019 Nov;41(8):601-605. doi: 10.1097/MPH.0000000000001575. J Pediatr Hematol Oncol. 2019. PMID: 31385860 Clinical Trial.
23 results