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Page 1
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
Irene Díez García-Prieto I, Lopez-Martín S, Albert J, Jiménez de la Peña M, Fernández-Mayoralas DM, Calleja-Pérez B, Gómez Fernández MT, Álvarez S, Pihlajaniemi T, Izzi V, Fernández-Jaén A. Irene Díez García-Prieto I, et al. Among authors: alvarez s. Neurocase. 2022 Feb;28(1):11-18. doi: 10.1080/13554794.2021.1928228. Epub 2022 Mar 6. Neurocase. 2022. PMID: 35253627 Review.
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: alvarez s. 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: alvarez s. 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: alvarez s. 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: alvarez s. 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: alvarez s. 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
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: alvarez s. Mol Syndromol. 2022 Feb;13(2):165-170. doi: 10.1159/000519365. Epub 2021 Dec 2. Mol Syndromol. 2022. PMID: 35418825 Free PMC article.
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
Fernández-Jaén A, Álvarez S, So EY, Ouchi T, Jiménez de la Peña M, Duat A, Fernández-Mayoralas DM, Fernández-Perrone AL, Albert J, Calleja-Pérez B. Fernández-Jaén A, et al. Among authors: alvarez s. Eur J Paediatr Neurol. 2016 May;20(3):421-5. doi: 10.1016/j.ejpn.2016.02.009. Epub 2016 Feb 21. Eur J Paediatr Neurol. 2016. PMID: 26947546 Free PMC article.
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.
Young N, Asif M, Jackson M, Fernández-Mayoralas DM, de la Peña MJ, Calleja-Pérez B, Álvarez S, Hunter-Featherstone E, Noegel AA, Höhne W, Nürnberg P, Obara B, Hussain MS, Karakesisoglou I, Fernández-Jaén A. Young N, et al. Among authors: alvarez s. Genes (Basel). 2021 Aug 24;12(9):1294. doi: 10.3390/genes12091294. Genes (Basel). 2021. PMID: 34573277 Free PMC article.
1,279 results