Publications

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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 .
  6. 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 .
  7. 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 .
  8. 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.
  9. 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 .
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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 .
  16. 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.
  17. 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. Front Med (Lausanne). 2016;3 :34. doi: 10.3389/fmed.2016.00034. PubMed PMID:27597944 PubMed Central PMC4992991.
  18. 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. Clin Case Rep. 2016;4 (8):752-5. doi: 10.1002/ccr3.610. PubMed PMID:27525076 PubMed Central PMC4974420.
  19. Pousada, G, Baloira, A, Fontán, D, Núñez, M, Valverde, D. Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension. BMC Genet. 2016;17 (1):72. doi: 10.1186/s12863-016-0384-3. PubMed PMID:27260700 PubMed Central PMC4893224.
  20. Pousada, G, Baloira, A, Castro-Añón, O, Valverde, D. [Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases]. Med Clin (Barc). 2016;146 (8):350-3. doi: 10.1016/j.medcli.2015.12.014. PubMed PMID:26897508 .
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