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Genome-Wide Variation in Betacoronaviruses.
LaTourrette K, Holste NM, Rodriguez-Peña R, Leme RA, Garcia-Ruiz H. LaTourrette K, et al. Among authors: rodriguez pena r. J Virol. 2021 Jul 12;95(15):e0049621. doi: 10.1128/JVI.00496-21. Epub 2021 Jul 12. J Virol. 2021. PMID: 34037417 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: rodriguez pena r. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
Detection of specific RBD+ IgG+ memory B cells by flow cytometry in healthcare workers and patients with inborn errors of immunity after BNT162b2 m RNA COVID-19 vaccination.
Del Pino Molina L, Bravo Gallego LY, Nozal P, Soto-Serrano Y, Martínez-Feito A, Reche-Yebra K, González-Torbay A, Cuesta-Martín de la Cámara R, Gianelli C, Cámara C, González-García J, González-Muñoz M, Rodríguez-Pena R, López Granados E. Del Pino Molina L, et al. Among authors: rodriguez pena r. Front Immunol. 2023 May 4;14:1136308. doi: 10.3389/fimmu.2023.1136308. eCollection 2023. Front Immunol. 2023. PMID: 37215146 Free PMC article.
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Del Pino-Molina L, Bravo Gallego LY, Soto Serrano Y, Reche Yebra K, Marty Lobo J, González Martínez B, Bravo García-Morato M, Rodríguez Pena R, van der Burg M, López Granados E. Del Pino-Molina L, et al. Among authors: rodriguez pena r. Front Immunol. 2023 Apr 24;14:1095123. doi: 10.3389/fimmu.2023.1095123. eCollection 2023. Front Immunol. 2023. PMID: 37197664 Free PMC article.
Vitamin D and Chronic Kidney Disease Association with Mineral and Bone Disorder: An Appraisal of Tangled Guidelines.
Bover J, Massó E, Gifre L, Alfieri C, Soler-Majoral J, Fusaro M, Calabia J, Rodríguez-Pena R, Rodríguez-Chitiva N, López-Báez V, Sánchez-Baya M, da Silva I, Aguilar A, Bustos MC, Rodrigues N, Chávez-Iñiguez JS, Romero-González G, Valdivielso JM, Molina P, Górriz JL. Bover J, et al. Among authors: rodriguez pena r. Nutrients. 2023 Mar 24;15(7):1576. doi: 10.3390/nu15071576. Nutrients. 2023. PMID: 37049415 Free PMC article. Review.
Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.
Bravo García-Morato M, Padilla-Merlano B, Matas Pérez E, Valdivieso Shephard JL, Robles Marhuenda Á, Santos Simarro F, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: rodriguez pena r. Rheumatology (Oxford). 2022 May 5;61(5):e114-e116. doi: 10.1093/rheumatology/keab903. Rheumatology (Oxford). 2022. PMID: 34864912 No abstract available.
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM. López-Nevado M, et al. Among authors: rodriguez pena r. Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021. Front Immunol. 2021. PMID: 34447369 Free PMC article.
Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
Matas Pérez E, Valdivieso Shephard JL, Bravo García-Morato M, Robles Marhuenda Á, Martinez-Ojinaga Nodal E, Prieto Bozano G, González Casado I, Salamanca Fresno L, Méndez Echevarria A, Del Rosal Rabes T, Allende Martínez L, López-Granados E, Rodríguez Pena R. Matas Pérez E, et al. Among authors: rodriguez pena r. Clin Immunol. 2021 Sep;230:108812. doi: 10.1016/j.clim.2021.108812. Epub 2021 Jul 27. Clin Immunol. 2021. PMID: 34329798 Review.
39 results