Publications

  1. Cruz-Utrilla, A, Gallego-Zazo, N, Pérez-Olivares, C, Hernández-González, I, Bedate, P, Meñaca, AM et al.. Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension. Rev Esp Cardiol (Engl Ed). 2022; :. doi: 10.1016/j.rec.2022.11.002. PubMed PMID:36403940 .
  2. Bea-Mascato, B, Neira-Goyanes, E, Iglesias-Rodríguez, A, Valverde, D. Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity. Front Mol Biosci. 2022;9 :992313. doi: 10.3389/fmolb.2022.992313. PubMed PMID:36325276 PubMed Central PMC9621122.
  3. Pérez, IF, Valverde, D, Valverde, CF, Iglesias, JB, Silva, MJV, Quintela, ML et al.. An analysis of prognostic factors in a cohort of low-grade gliomas and degree of consistency between RTOG and EORTC scores. Sci Rep. 2022;12 (1):16433. doi: 10.1038/s41598-022-20429-8. PubMed PMID:36180501 PubMed Central PMC9525658.
  4. Prapa, M, Lago-Docampo, M, Swietlik, EM, Montani, D, Eyries, M, Humbert, M et al.. First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. Am J Respir Crit Care Med. 2022; :. doi: 10.1164/rccm.202203-0485OC. PubMed PMID:35852389 .
  5. Perea-Romero, I, Solarat, C, Blanco-Kelly, F, Sanchez-Navarro, I, Bea-Mascato, B, Martin-Salazar, E et al.. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome. NPJ Genom Med. 2022;7 (1):41. doi: 10.1038/s41525-022-00311-2. PubMed PMID:35835773 PubMed Central PMC9283419.
  6. Martín-Salazar, JE, Valverde, D. CPLANE Complex and Ciliopathies. Biomolecules. 2022;12 (6):. doi: 10.3390/biom12060847. PubMed PMID:35740972 PubMed Central PMC9221175.
  7. Lago-Docampo, M, Solarat, C, Méndez-Martínez, L, Baloira, A, Valverde, D. Common Variation in EDN1 Regulatory Regions Highlights the Role of PPARγ as a Key Regulator of Endothelin in vitro. Front Cardiovasc Med. 2022;9 :823133. doi: 10.3389/fcvm.2022.823133. PubMed PMID:35282351 PubMed Central PMC8913939.
  8. Gallego-García, P, Varela, N, Estévez-Gómez, N, De Chiara, L, Fernández-Silva, I, Valverde, D et al.. Limited genomic reconstruction of SARS-CoV-2 transmission history within local epidemiological clusters. Virus Evol. 2022;8 (1):veac008. doi: 10.1093/ve/veac008. PubMed PMID:35242361 PubMed Central PMC8889950.
  9. Hernandez-Gonzalez, I, Tenorio-Castano, J, Ochoa-Parra, N, Gallego, N, Pérez-Olivares, C, Lago-Docampo, M et al.. Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease. Cells. 2021;10 (6):. doi: 10.3390/cells10061488. PubMed PMID:34199176 PubMed Central PMC8231632.
  10. Bea-Mascato, B, Solarat, C, Perea-Romero, I, Jaijo, T, Blanco-Kelly, F, Millán, JM et al.. Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes (Basel). 2021;12 (2):. doi: 10.3390/genes12020282. PubMed PMID:33669459 PubMed Central PMC7920446.
  11. Álvarez-Satta, M, Lago-Docampo, M, Bea-Mascato, B, Solarat, C, Castro-Sánchez, S, Christensen, ST et al.. ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia. Front Cell Dev Biol. 2021;9 :623829. doi: 10.3389/fcell.2021.623829. PubMed PMID:33598462 PubMed Central PMC7882606.
  12. De Chiara, L, Leiro-Fernandez, V, Rodríguez-Girondo, M, Valverde, D, Botana-Rial, MI, Fernández-Villar, A et al.. Comparison of Bisulfite Pyrosequencing and Methylation-Specific qPCR for Methylation Assessment. Int J Mol Sci. 2020;21 (23):. doi: 10.3390/ijms21239242. PubMed PMID:33287451 PubMed Central PMC7730915.
  13. Castaño, JAT, Hernández-Gonzalez, I, Gallego, N, Pérez-Olivares, C, Ochoa Parra, N, Arias, P et al.. Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension. Genes (Basel). 2020;11 (10):. doi: 10.3390/genes11101158. PubMed PMID:33007923 PubMed Central PMC7650688.
  14. Tahani, N, Maffei, P, Dollfus, H, Paisey, R, Valverde, D, Milan, G et al.. Consensus clinical management guidelines for Alström syndrome. Orphanet J Rare Dis. 2020;15 (1):253. doi: 10.1186/s13023-020-01468-8. PubMed PMID:32958032 PubMed Central PMC7504843.
  15. Lago-Docampo, M, Tenorio, J, Hernández-González, I, Pérez-Olivares, C, Escribano-Subías, P, Pousada, G et al.. Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients. Sci Rep. 2020;10 (1):15135. doi: 10.1038/s41598-020-72089-1. PubMed PMID:32934261 PubMed Central PMC7492224.
  16. Hernandez-Gonzalez, I, Tenorio, J, Palomino-Doza, J, Martinez Meñaca, A, Morales Ruiz, R, Lago-Docampo, M et al.. Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. PLoS One. 2020;15 (4):e0232216. doi: 10.1371/journal.pone.0232216. PubMed PMID:32348326 PubMed Central PMC7190146.
  17. Castro-Sánchez, S, Suarez-Bregua, P, Novas, R, Álvarez-Satta, M, Badano, JL, Rotllant, J et al.. Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Sci Rep. 2020;10 (1):2876. doi: 10.1038/s41598-020-60006-5. PubMed PMID:32051508 PubMed Central PMC7015915.
  18. Leiro, V, De Chiara, L, Rodríguez-Girondo, M, Botana-Rial, M, Valverde, D, Núñez-Delgado, M et al.. Methylation Assessment for the Prediction of Malignancy in Mediastinal Adenopathies Obtained by Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration in Patients with Lung Cancer. Cancers (Basel). 2019;11 (10):. doi: 10.3390/cancers11101408. PubMed PMID:31547177 PubMed Central PMC6826358.
  19. Castro-Sánchez, S, Suarez-Bregua, P, Novas, R, Álvarez-Satta, M, Badano, JL, Rotllant, J et al.. Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Sci Rep. 2019;9 (1):12936. doi: 10.1038/s41598-019-49217-7. PubMed PMID:31506453 PubMed Central PMC6736949.
  20. García-Oro, S, Valverde, D. Does the meiotic spindle really predicts embryo implantation and live birth rates? An update. Zygote. 2019;27 (1):1-4. doi: 10.1017/S096719941800059X. PubMed PMID:30516453 .
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