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Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.
Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Palacios NJ, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Fragua RV, Gómez T, Fortuny OA, Jiménez IG, Laso EL, Martínez AR, López JM, Garcia-Cazorla À. Alfonsi C, et al. Among authors: vila mt. Neuroradiology. 2022 Nov;64(11):2179-2190. doi: 10.1007/s00234-022-02989-8. Epub 2022 Jun 4. Neuroradiology. 2022. PMID: 35662359
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Topic: Abdominal Wall Hernia - Prophylactic Mesh.
Ureña IV, De Valderrama MI, Vila MT, Strömberg H, Matheme H, Hellman P, Sandblom G, Köhler BP, Moreno FG, Sotomayor S, Bayon Y, Pascual G, Bellón JM, Norton L, Emmanual J, Zhang J, Lykke A, Jorgensen LN, Mynster T. Ureña IV, et al. Among authors: vila mt. Hernia. 2015 Apr;19 Suppl 1:S212-4. doi: 10.1007/BF03355352. Hernia. 2015. PMID: 26518803 No abstract available.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
[Viral encephalitis in children].
Téllez de Meneses M, Vila MT, Barbero Aguirre P, Montoya JF. Téllez de Meneses M, et al. Among authors: vila mt. Medicina (B Aires). 2013;73 Suppl 1:83-92. Medicina (B Aires). 2013. PMID: 24072056 Free article. Review. Spanish.
20 results