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Page 1
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. 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
[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: jimenez de domingo a. 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: jimenez de domingo a. Actas Esp Psiquiatr. 2019 Jul;47(4):158-64. Epub 2019 Jul 1. Actas Esp Psiquiatr. 2019. PMID: 31461155 Free 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: jimenez de domingo a. Medicina (B Aires). 2020;80 Suppl 2:26-30. Medicina (B Aires). 2020. PMID: 32150709 Free article. Review. Spanish.
Jansen-de Vries syndrome. First case diagnosed in Spain.
Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Alba Menéndez A, Fernández-Jaén A. Martín Fernández-Mayoralas D, et al. Among authors: jimenez de domingo a. Neurologia (Engl Ed). 2021 May;36(4):330-332. doi: 10.1016/j.nrl.2020.06.006. Epub 2020 Sep 9. Neurologia (Engl Ed). 2021. PMID: 32919790 Free article. English, Spanish. No abstract available.
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: jimenez de domingo a. 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: jimenez de domingo a. Mol Syndromol. 2021 Jun;12(3):186-193. doi: 10.1159/000513583. Epub 2021 Apr 9. Mol Syndromol. 2021. PMID: 34177436 Free PMC article.
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.
Lopez-Martín S, Albert J, Peña Vila-Belda MDM, Liu X, Zhang ZC, Han J, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Álvarez S, Fernández-Jaén A. Lopez-Martín S, et al. Among authors: jimenez de domingo a. Appl Neuropsychol Child. 2022 Oct-Dec;11(4):921-927. doi: 10.1080/21622965.2021.1970551. Epub 2021 Sep 1. Appl Neuropsychol Child. 2022. PMID: 34470565
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.
Jiménez de la Peña M, Fernández-Mayoralas DM, López-Martín S, Albert J, Calleja-Pérez B, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Álvarez S, Fernández-Jaén A. Jiménez de la Peña M, et al. Among authors: jimenez de domingo a. Eur J Paediatr Neurol. 2021 Nov;35:8-15. doi: 10.1016/j.ejpn.2021.09.008. Epub 2021 Sep 16. Eur J Paediatr Neurol. 2021. PMID: 34547584
19 results