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Page 1
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L, Vázquez-Mosquera ME, Colón-Mejeras C, Bravo SB, Barbosa-Gouveia S, Álvarez JV, Sánchez-Martínez R, López-Mendoza M, López-Rodríguez M, Villacorta-Argüelles E, Goicoechea-Diezhandino MA, Guerrero-Márquez FJ, Ortolano S, Leao-Teles E, Hermida-Ameijeiras Á, Couce ML. López-Valverde L, et al. Among authors: sanchez martinez r. Transl Res. 2024 Jul;269:47-63. doi: 10.1016/j.trsl.2024.02.006. Epub 2024 Feb 21. Transl Res. 2024. PMID: 38395389 Free article.
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R, Iriarte A, Mora-Luján JM, Patier JL, López-Wolf D, Ojeda A, Torralba MA, Juyol MC, Gil R, Añón S, Salazar-Mendiguchía J, Riera-Mestre A; RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine. Sánchez-Martínez R, et al. Orphanet J Rare Dis. 2020 Jun 5;15(1):138. doi: 10.1186/s13023-020-01422-8. Orphanet J Rare Dis. 2020. PMID: 32503579 Free PMC article.
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Sánchez-Heras AB, Dámaso E, Castillejo A, Robledo M, Teulé A, Lázaro C, Sánchez-Martínez R, Zúñiga Á, López-Fernández A, Balmaña J, Robles L, Ramon Y Cajal T, Castillejo MI, Ibañez RP, Sevila CM, Sánchez-Mira A, Escandell I, Gómez L, Berbel P, Soto JL. Sánchez-Heras AB, et al. Among authors: sanchez martinez r. Orphanet J Rare Dis. 2024 Jan 26;19(1):26. doi: 10.1186/s13023-024-03017-z. Orphanet J Rare Dis. 2024. PMID: 38279137 Free PMC article.
Severe Spontaneous Hematomas in Patients Hospitalized with COVID-19.
Otero-Rodriguez S, Guillen C, Mataix M, Gonzalez-de-la-Aleja P, Cruces-Fuentes E, Mantilla-Pinilla AJ, Moreno-Perez O, Sanchez-Martinez R, Merino E, Ramos-Rincon JM. Otero-Rodriguez S, et al. Among authors: sanchez martinez r. Int J Clin Pract. 2023 Jul 25;2023:6668475. doi: 10.1155/2023/6668475. eCollection 2023. Int J Clin Pract. 2023. PMID: 37533548 Free PMC article.
Description of two cultivated and two uncultivated new Salinibacter species, one named following the rules of the bacteriological code: Salinibacter grassmerensis sp. nov.; and three named following the rules of the SeqCode: Salinibacter pepae sp. nov., Salinibacter abyssi sp. nov., and Salinibacter pampae sp. nov.
Viver T, Conrad RE, Lucio M, Harir M, Urdiain M, Gago JF, Suárez-Suárez A, Bustos-Caparros E, Sanchez-Martinez R, Mayol E, Fassetta F, Pang J, Mădălin Gridan I, Venter S, Santos F, Baxter B, Llames ME, Cristea A, Banciu HL, Hedlund BP, Stott MB, Kämpfer P, Amann R, Schmitt-Kopplin P, Konstantinidis KT, Rossello-Mora R. Viver T, et al. Among authors: sanchez martinez r. Syst Appl Microbiol. 2023 May;46(3):126416. doi: 10.1016/j.syapm.2023.126416. Epub 2023 Mar 15. Syst Appl Microbiol. 2023. PMID: 36965279 Free article.
Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry.
Cabañero-Navalon MD, Garcia-Bustos V, Nuñez-Beltran M, Císcar Fernández P, Mateu L, Solanich X, Carrillo-Linares JL, Robles-Marhuenda Á, Puchades-Gimeno F, Pelaez Ballesta A, López-Osle N, Torralba-Cabeza MÁ, Bielsa Masdeu AM, Diego Gil J, Tornador Gaya N, Pascual Castellanos G, Sánchez-Martínez R, Barragán-Casas JM, González-García A, Patier de la Peña JL, López-Wolf D, Mora Rufete A, Canovas Mora A, Forner Giner MJ, Moral Moral P. Cabañero-Navalon MD, et al. Among authors: sanchez martinez r. Front Immunol. 2022 Oct 28;13:1033666. doi: 10.3389/fimmu.2022.1033666. eCollection 2022. Front Immunol. 2022. PMID: 36389743 Free PMC article.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: sanchez martinez r. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
Pathological Findings Associated With SARS-CoV-2 on Postmortem Core Biopsies: Correlation With Clinical Presentation and Disease Course.
Ramos-Rincon JM, Herrera-García C, Silva-Ortega S, Portilla-Tamarit J, Alenda C, Jaime-Sanchez FA, Arenas-Jiménez J, Fornés-Riera FE, Scholz A, Escribano I, Pedrero-Castillo V, Muñoz-Miguelsanz C, Orts-Llinares P, Martí-Pastor A, Amo-Lozano A, García-Sevila R, Ribes-Mengual I, Moreno-Perez O, Concepcion-Aramendía L, Merino E, Sánchez-Martínez R, Aranda I. Ramos-Rincon JM, et al. Among authors: sanchez martinez r. Front Med (Lausanne). 2022 Jul 7;9:874307. doi: 10.3389/fmed.2022.874307. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35872778 Free PMC article.
79 results