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Page 1
[Genetics of ADHD in clinical practice].
López-Martín S, Albert J, Calleja-Pérez B, Fernández-Mayoralas DM, Fernández-Perrone AL, Jiménez De Domingo A, Fernández-Jaén A. López-Martín S, et al. Among authors: jimenez de domingo a. Medicina (B Aires). 2024 Mar;84 Suppl 1:26-30. Medicina (B Aires). 2024. PMID: 38350621 Free article. Review. Spanish.
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: jimenez de domingo a. 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
[The impact of ADHD on reading].
Sánchez-Carmona AJ, Albert J, López-Martín S, Calleja-Pérez B, Fernández-Mayoralas DM, Jiménez De Domingo A, Fernández-Perrone AL, Fernández-Jaén A. Sánchez-Carmona AJ, et al. Among authors: jimenez de domingo a. Medicina (B Aires). 2023 Mar;83 Suppl 2:22-26. Medicina (B Aires). 2023. PMID: 36820478 Free article. Review. Spanish.
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.
Martín Fernández-Mayoralas D, Albert J, López-Martín S, de la Peña MJ, Fernández-Perrone AL, Jiménez de Domingo A, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Martín Fernández-Mayoralas D, et al. Among authors: jimenez de domingo a. Mol Syndromol. 2022 Feb;13(2):165-170. doi: 10.1159/000519365. Epub 2021 Dec 2. Mol Syndromol. 2022. PMID: 35418825 Free PMC article.
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
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
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.
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.
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
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