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Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Jiménez de la Peña M, Rincón-Pérez I, López-Martín S, Albert J, Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Porta J, Álvarez S, Fernández-Jaén A. Jiménez de la Peña M, et al. Among authors: tirado p. Am J Med Genet A. 2024 Feb;194(2):211-217. doi: 10.1002/ajmg.a.63434. Epub 2023 Oct 5. Am J Med Genet A. 2024. PMID: 37795572
[Attention deficit/hyperactivity disorder. Study habits].
Calleja-Pérez B, Párraga JL, Albert J, López-Martín S, Jiménez de Domingo A, Fernández-Perrone AL, Fernández-Mayoralas DM, Tirado P, Suárez-Guinea R, López-Arribas S, Fernández-Jaén A. Calleja-Pérez B, et al. Among authors: tirado p. Medicina (B Aires). 2019;79(Suppl 1):57-61. Medicina (B Aires). 2019. PMID: 30776281 Free article. Spanish.
Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents.
Párraga JL, Calleja Pérez B, López-Martín S, Albert J, Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, López-Arribas S, Suárez-Guinea R, Fernández-Jaén A. Párraga JL, et al. Among authors: tirado p. Actas Esp Psiquiatr. 2019 Jul;47(4):158-64. Epub 2019 Jul 1. Actas Esp Psiquiatr. 2019. PMID: 31461155 Free article.
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.
[Genetic studies and neurodevelopment. From effectiveness to genetic models].
Calleja-Pérez B, Fernández-Perrone AL, Fernández-Mayoralas DM, Jiménez de Domingo A, Tirado P, López-Arribas S, Suárez-Guinea R, Fernández-Jaén A. Calleja-Pérez B, et al. Among authors: tirado p. Medicina (B Aires). 2020;80 Suppl 2:26-30. Medicina (B Aires). 2020. PMID: 32150709 Free article. Review. Spanish.
ANO3 and early-onset dyskinetic encephalopathy.
Jiménez de Domingo A, Lopez-Martín S, Albert J, Jiménez de la Peña M, Tirado P, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Jiménez de Domingo A, et al. Among authors: tirado p. Eur J Med Genet. 2020 Dec;63(12):104085. doi: 10.1016/j.ejmg.2020.104085. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045406
Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.
Tran V, Goyette MA, Martínez-García M, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Tirado P, Calleja-Pérez B, Álvarez S, Côté JF, Fernández-Jaén A. Tran V, et al. Among authors: tirado p. Small GTPases. 2022 Jan;13(1):48-55. doi: 10.1080/21541248.2021.1888557. Epub 2021 Mar 4. Small GTPases. 2022. PMID: 33660564 Free PMC article.
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.
Jiménez de la Peña M, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Alcaraz LA, Álvarez S, Williams J, Hagman JR, Németh AH, Fernández-Jaén A. Jiménez de la Peña M, et al. Among authors: tirado p. Mol Syndromol. 2021 Jun;12(3):186-193. doi: 10.1159/000513583. Epub 2021 Apr 9. Mol Syndromol. 2021. PMID: 34177436 Free PMC article.
28 results