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Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Cabrera-Alarcon JL, et al. Among authors: latorre pellicer a. Commun Biol. 2025 Jan 9;8(1):33. doi: 10.1038/s42003-024-07314-y. Commun Biol. 2025. PMID: 39789223 Free PMC article.
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Lucia-Campos C, Parenti I, Latorre-Pellicer A, Gil-Salvador M, Bestetti I, Finelli P, Larizza L, Arnedo M, Ayerza-Casas A, Del Rincón J, Trujillano L, Morte B, Pérez-Jurado LA, Lapunzina P, Leitão E, Beygo J, Lich C, Kilpert F, Kaya S, Depienne C, Kaiser FJ, Ramos FJ, Puisac B, Pié J. Lucia-Campos C, et al. Among authors: latorre pellicer a. Front Genet. 2024 Nov 1;15:1472543. doi: 10.3389/fgene.2024.1472543. eCollection 2024. Front Genet. 2024. PMID: 39553472 Free PMC article.
Cornelia de Lange Spectrum.
Ascaso Á, Arnedo M, Puisac B, Latorre-Pellicer A, Del Rincón J, Bueno-Lozano G, Pié J, Ramos FJ. Ascaso Á, et al. Among authors: latorre pellicer a. An Pediatr (Engl Ed). 2024 May;100(5):352-362. doi: 10.1016/j.anpede.2024.04.012. Epub 2024 May 11. An Pediatr (Engl Ed). 2024. PMID: 38735830 Free article.
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
Ascaso Á, Latorre-Pellicer A, Puisac B, Trujillano L, Arnedo M, Parenti I, Llorente E, Puente-Lanzarote JJ, Matute-Llorente Á, Ayerza-Casas A, Kaiser FJ, Ramos FJ, Juste JP, Bueno-Lozano G. Ascaso Á, et al. Among authors: latorre pellicer a. J Clin Res Pediatr Endocrinol. 2024 May 31;16(2):211-217. doi: 10.4274/jcrpe.galenos.2022.2022-4-14. Epub 2022 Dec 9. J Clin Res Pediatr Endocrinol. 2024. PMID: 36482071 Free PMC article.
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
Trujillano L, Ayerza-Casas A, Puisac B, García GG, Ascaso Á, Latorre-Pellicer A, Arnedo M, Lucia-Campos C, Gil-Salvador M, Kaiser FJ, Ramos FJ, Pié J, Bueno-Lozano G. Trujillano L, et al. Among authors: latorre pellicer a. Int J Cardiovasc Imaging. 2022 Nov;38(11):2291-2302. doi: 10.1007/s10554-022-02612-0. Epub 2022 May 19. Int J Cardiovasc Imaging. 2022. PMID: 36434327 Free PMC article.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Gil-Salvador M, Latorre-Pellicer A, Lucia-Campos C, Arnedo M, Darnaude MT, Díaz de Bustamante A, Villares R, Palma Milla C, Puisac B, Musio A, Ramos FJ, Pié J. Gil-Salvador M, et al. Among authors: latorre pellicer a. Front Genet. 2022 Sep 28;13:993064. doi: 10.3389/fgene.2022.993064. eCollection 2022. Front Genet. 2022. PMID: 36246631 Free PMC article.
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Arnedo M, Ascaso Á, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Ayerza-Casas A, Pablo MJ, Gómez-Puertas P, Ramos FJ, Bueno-Lozano G, Pié J, Puisac B. Arnedo M, et al. Among authors: latorre pellicer a. Int J Mol Sci. 2022 Aug 25;23(17):9649. doi: 10.3390/ijms23179649. Int J Mol Sci. 2022. PMID: 36077045 Free PMC article. Review.
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. Lucia-Campos C, et al. Among authors: latorre pellicer a. Genes (Basel). 2022 Aug 8;13(8):1413. doi: 10.3390/genes13081413. Genes (Basel). 2022. PMID: 36011323 Free PMC article.
33 results