Publications

  1. 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 .
  2. 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 .
  3. 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.
  4. 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.
  5. 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. 2019;11 (10):. doi: 10.3390/cancers11101408. PubMed PMID:31547177 PubMed Central PMC6826358.
  6. 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.
  7. 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 .
  8. García-Mayor, RV, Álvarez-Vázquez, P, Fluiters, E, Valverde, D, Andrade, A. Long-term remission following antithyroid drug withdrawal in patients with Graves' hyperthyroidism: parameters with prognostic value. Endocrine. 2019;63 (2):316-322. doi: 10.1007/s12020-018-1785-z. PubMed PMID:30334140 .
  9. Kılınç, S, Yücel-Yılmaz, D, Ardagil, A, Apaydın, S, Valverde, D, Özgül, RK et al.. Five novel ALMS1 gene mutations in six patients with Alström syndrome. J. Pediatr. Endocrinol. Metab. 2018;31 (6):681-687. doi: 10.1515/jpem-2017-0418. PubMed PMID:29715191 .
  10. Sanchez-Navarro, I, R J da Silva, L, Blanco-Kelly, F, Zurita, O, Sanchez-Bolivar, N, Villaverde, C et al.. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. Sci Rep. 2018;8 (1):5285. doi: 10.1038/s41598-018-23520-1. PubMed PMID:29588463 PubMed Central PMC5869593.
  11. Pousada, G, Lago-Docampo, M, Baloira, A, Valverde, D. Pulmonary arterial hypertension associated to systemic erythematosus lupus: molecular characterization of 3 cases. Med Clin (Barc). 2018;151 (3):111-115. doi: 10.1016/j.medcli.2018.01.023. PubMed PMID:29526310 .
  12. Pousada, G, Lago-Docampo, M, Prado, S, Varela-Calviño, R, Mantiñán, B, Valverde, D et al.. Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves' disease patients. J. Cell. Mol. Med. 2018;22 (3):1538-1547. doi: 10.1111/jcmm.13425. PubMed PMID:29266775 PubMed Central PMC5824380.
  13. Castro-Sánchez, S, Álvarez-Satta, M, Tohamy, MA, Beltran, S, Derdak, S, Valverde, D et al.. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PLoS ONE. 2017;12 (8):e0183081. doi: 10.1371/journal.pone.0183081. PubMed PMID:28800606 PubMed Central PMC5553726.
  14. Pousada, G, Lupo, V, Cástro-Sánchez, S, Álvarez-Satta, M, Sánchez-Monteagudo, A, Baloira, A et al.. Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. Sci Rep. 2017;7 (1):1923. doi: 10.1038/s41598-017-02074-8. PubMed PMID:28507310 PubMed Central PMC5432510.
  15. Álvarez-Satta, M, Castro-Sánchez, S, Pousada, G, Valverde, D. Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. J. Cell. Mol. Med. 2017;21 (10):2268-2275. doi: 10.1111/jcmm.13147. PubMed PMID:28502102 PubMed Central PMC5618670.
  16. García-Oro, S, Rey, MI, Rodríguez, M, Durán, Á, Devesa, R, Valverde, D et al.. Predictive value of spindle retardance in embryo implantation rate. J. Assist. Reprod. Genet. 2017;34 (5):617-625. doi: 10.1007/s10815-017-0897-3. PubMed PMID:28281144 PubMed Central PMC5427648.
  17. Pousada, G, Baloira, A, Valverde, D. Mutational screening in genes related with porto-pulmonary hypertension: An analysis of 6 cases. Med Clin (Barc). 2017;148 (7):310-313. doi: 10.1016/j.medcli.2017.01.020. PubMed PMID:28245912 .
  18. Pousada, G, Baloira, A, Valverde, D. Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations. Sci Rep. 2016;6 :33570. doi: 10.1038/srep33570. PubMed PMID:27630060 PubMed Central PMC5024326.
  19. Leiro-Fernández, V, Valverde, D, Vázquez-Gallardo, R, Constenla-Caramés, L, Del Campo-Pérez, V, Fernández-Villar, A et al.. HLA-DQ B1*0201 and A1*0102 Alleles Are Not Responsible for Antituberculosis Drug-Induced Hepatotoxicity Risk in Spanish Population. 2016;3 :34. doi: 10.3389/fmed.2016.00034. PubMed PMID:27597944 PubMed Central PMC4992991.
  20. Baloira, A, Bastos, M, Pousada, G, Valverde, D. Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene. 2016;4 (8):752-5. doi: 10.1002/ccr3.610. PubMed PMID:27525076 PubMed Central PMC4974420.
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