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Listar 02.01.01. Investigación y comunicación científica por título

Listar 02.01.01. Investigación y comunicación científica por título

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  • Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome 
    Moscoso, Isabel; Serrano-Cruz, Valentina; Cebro-Marquez, María; Vilar-Sánchez, Marta-E; Vidal-Abeijon, Iria; Brion, María; Blanco-Verea, Alejandro; Martínez-Campelo, Laura; Feijoo-Bandin, Sandra; Jiménez-Ramos, Victor; Gimeno-Blanes, Juan-Ramón; Sabater-Molina, María; Jiménez-Jaimez, Juan; González-Juanatey, José-Ramón; Rodríguez-Manero, Moises; Lage, Ricardo (NATURE PORTFOLIO, 2025-10-22)
    Brugada syndrome (BrS) is an inherited cardiac disorder characterized by electrical disturbances. Pathogenic variants in the SCN5A gene are implicated in 25-30% of probands. Although loss-of-function mutations in SCN5A ...
  • Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome 
    van-der-Laan, Liselot; Rooney, Kathleen; Alders, Marielle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael-A; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew-L; Vissers, Lisenka-ELM; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette-J; Wieczorek, Dagmar; Bramswig, Nuria-C; Herget, Theresia; López-González, Vanesa; Santos-Simarro, Fernando; Torring, Pernille-M; Denomme-Pichon, Anne-Sophie; Isidor, Bertrand; Keren, Boris; Julia, Sophie; Schaefer, Elise; Francannet, Christine; Maillard, Pierre-Yves; Misra-Isrie, Mala; Van-Esch, Hilde; Mannens, Marcel-MAM; Sadikovic, Bekim; van-Haelst, Mieke-M; Henneman, Peter (MDPI, 2022-11)
    Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the TRIP12 (Thyroid Hormone Receptor Interactor 12) gene. TRIP12 encodes an E3 ligase in the ubiquitin ...
  • Erratum to "Pulse immunosuppressive therapy for multiple sclerosis during the SARS-CoV-2 lockdown de-escalation plan: Safety algorithm" [Neurologia. 2020;35(6):357-362 (Neurología (2020) 35(6) (357-362), (S0213485320301389), (10.1016/j.nrl.2020.06.001)); 
    Valero-López, G; Carreón-Guarnizo, Ester; Hernández-Clares, Rocío; Iniesta-Martínez, F; Jiménez-Veiga, J; Moreno-Docón, Antonio; Iborra-Bendicho, Asunción; Aznar-Robles, E; Hellín-Gil, María-Fuensanta; Morales-Ortiz, A; Meca-Lallana, José-Eustasio (Spanish Society of Neurology, 2020)
  • ¿Es útil la arteriografía medular en el diagnóstico diferencial de las mielopatías de origen desconocido? Análisis de una serie de 93 casos 
    Parrilla, Guillermo; Zamarro-Parra, Joaquín; García-Villalba-Navaridas, Blanca; Díaz-Pérez, José; de-Paco-Tudela, Gonzalo; Espinosa-de-Rueda-Ruiz, Mariano (ELSEVIER, 2026-03)
    BACKGROUND: Myelopathies of unknown origin (MUO) constitute a challenge for the clinician, due to the absence of image findings that explain the symptoms of the patients. The role of spinal angiography (SA) in MUO has not ...
  • ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients 
    Helio, Tiina; Elliott, Perry; Koskenvuo, Juha-W; Gimeno, Juan-R; Tavazzi, Luigi; Tendera, Michal; Kaski, Juan-Pablo; Mansencal, Nicolas; Bilinska, Zofia; Carr-White, Gerry; Damy, Thibaud; Frustaci, Andrea; Kindermann, Ingrid; Ripoll-Vera, Tomás; Celutkiene, Jelena; Axelsson, Anna; Lorenzini, Massimiliano; Saad, Aly; Maggioni, Aldo-P; Laroche, Cecile; Caforio, Alida-LP; Charron, Philippe (Wiley Periodicals, Inc, 2020-10)
    AIMS: Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. We assessed the current practice of genetic counselling and testing in the prospective European Society of Cardiology EURObservational ...
  • Esophageal stricture as an initial manifestation of Crohn's disease 
    Ruiz-Manzanera, Juan-José; Ruiz-de-Angulo-Martín, David; Fernáncez-Pérez, Juan; Munitiz-Ruiz, Vicente (Arán Ediciones, 2022)
    Crohn's disease located in the esophagus is rare, being exceptional as the initial manifestation of the disease. Erosive ulcerative esophagitis, stricture and fistula are forms of presentation, as in other esophageal ...
  • Espasticidad y ataxia progresiva por sustancia blanca evanescente 
    Paez-Granda, Diego; Jiménez-Sánchez, Andrés-Francisco; Fernández-Hernández, Carmen; Serrano-García, Cristina (REVISTA DE NEUROLOGIA, 2017)
  • ESPNIC clinical practice guidelines: intravenous maintenance fluid therapy in acute and critically ill children- a systematic review and meta-analysis 
    Brossier, David-W; Tume, Lyvonne-N; Briant, Anais-R; Chaparro, Corinne-Jotterand; Moullet, Clemence; Rooze, Shancy; Verbruggen, Sascha-CAT; Marino, Luise; Alsohime, Fahad; Beldjilali, Sophie; Chiusolo, Fabrizio; Costa, Leonardo; Didier, Capucine; Ilia, Stavroula; Joram, Nyandat-L; Kneyber, Martín-CJ; Kuhlwein, Eva; López, Jorge; López-Herce, Jesús; Mayberry, Huw-F; Mehmeti, Fortesa; Mierzewska-Schmidt, Magdalena; Minambres-Rodríguez, María; Morice, Claire; Pappachan, John-V; Porcheret, Florence; Boto, Leonor-Reis; Schlapbach, Luregn-J; Tekguc, Hakan; Tziouvas, Konstantinos; Parienti, Jean-Jacques; Goyer, Isabelle; Valla, Frederic-V (Springer, 2022-12)
    PURPOSE: Intravenous maintenance fluid therapy (IV-MFT) prescribing in acute and critically ill children is very variable among pediatric health care professionals. In order to provide up to date IV-MFT guidelines, the ...
  • Essential Medicines at the National Level: The Global Asthma Network's Essential Asthma Medicines Survey 2014 
    Bissell, Karen; Ellwood, Philippa; Ellwood, Eamon; Chiang, Chen-Yuan; Marks, Guy-B; El-Sony, Asma; Asher, Innes; Billo, Nils; Perrin, Christophe; Asher, I; Billo, N-E; Bissell, K; Chiang, C-Y; El-Sony, A; Ellwood, P; García-Marcos, Luis; Mallol, J; Marks, G-B; Pearce, N; Strachan, D; Priftanji, A; Boukari, R; Taright, S; Gómez, M; Baghdasaryan, A; Burgess, S; Marks, G-B; Mattes, J; Tai, A; Riedler, J; Shpakou, A; Weyler, J; Lawin, H; de-Abruzzese, Aguirre-J; Domuz, S; Brandao, H; Camargos, P-A-M; Fischer, G-B; Menezes, A-M; Porto-Neto, A-C; Rosario, N; Sole, D; Mustakov, T-B; Birba, E; Ngahane, Mbatchou-B-H; Tse, S-M; Standring, P; Aguirre, V; Calvo-Gil, M-A; Chen, Y-Z; Kan, X; García, E; Niederbacher, J; Obel, Kabengele-B; Soto-Quiros, M-E; Banac, S; Yiallouros, P; Lochte, L; Barba, S; Bustos, C; El-Falaki, M; Figueroa-Colorado, M; Weihe, P; Lal, V-A; Makela, M; Annesi-Maesano, I; Raherison, C; Annesi-Maesano, I; Gotua, M; von-Mutius, E; Addo-Yobo, E-O; Akpinar-Elci, M; Lai, C-K-W; Novak, Z; Kabra, S-K; Ilangho, R-P; Pherwani, A; Sharma, S-K; Sukumaran, T-U; Dalimunthe, W; Karimi, M; Masjedi, M-R; Manning, P; Shohat, T; Forastiere, F; La-Grutta, S; Petronio, M-G; Piffer, S; Kahwa, E; Odajima, H; Abu-Ekteish, F; Amukoye, E-I; Esamai, F-O; Hong, S-J; Neziri-Ahmetaj, L; Momen, J-A; Akkhavong, K; Svabe, V; Vlaski, E; Mortimer, K; Daud, M; Montefort, S; del-Rio-Navarro, B-E; Jiménez-González, C-A; Merida-Palacio, J; Paramo-Arroyo, R-F; Munkhbayarlakh, S; Brunekreef, B; Annesi-Maesano, I; Asher, I; Currie, S; Douwes, J; Graham, D; Hancox, R; Moyes, C; Pattemore, P; Vis, K; Cordero, Rizo-M-Z; Ayuk, A; Falade, A-G; Garba, Ilah-B; Hammangabdo, A; Onyia, N; Pulu, M; Nystad, W; Al-Rawas, O; Yusuf, M-O; Watson, B-M; El-Sharif, N; Cukier, G; Chiarella, P; Pagcatipunan, R; Breborowicz, A; Lis, G; Morais-Almeida, M; Annesi-Maesano, I; Deleanu, D; Kamaltynova, E; Kondiurina, E-G; Esera-Tulifau, L; Al-Ghamdi,; Memish, Z-A; Nahhas, M-A; Yousef, A; Toure, N-O; Visnjevac, D; Zivkovic, Z; Deen, G-F; Goh, D-Y-T; Masekala, R; Zar, H-J; Carvajal-Uruena, I; García-Marcos, Luis; González-Díaz, C; Korta-Murua, J; Luna-Paredes, C; Morales-Suárez-Varela, M; Praena-Crespo, M; Kudagammana, S-T; El-Sony, A; Mohammad, Y; Guo, Y-L; Huang, J-L; Lao-Araya, M; Teeratakulpisarn, J; Vichyanond, P; Anderson, S; Tidjani, O; Iosefa, T; Aho, G; Dookeeram, D; Hamzaoui, A; Yorgancioglu, A; Ituaso-Conway, N; Worodria, W; Fedortsiv, O; Mahboub, B; Mansur, A-H; Kumar, H; Valentin-Rostan, M; Harrison, G; Fiocchi, A; Le, L-T-T; Wa-Somwe, S; Manangazira, P (MDPI, 2019-02-02)
    Patients with asthma need uninterrupted supplies of affordable, quality-assured essential medicines. However, access in many low- and middle-income countries (LMICs) is limited. The World Health Organization (WHO) ...
  • Establishment of a clinical pathway for home enteral nutrition prescription in Murcia Profile and sample characteristics 
    Ferrer-Gómez, Mercedes; Sánchez-Romera, Juan-F; García-Zafra, María-Victoria; Cuerica-Sánchez, José-Ramón; Hernández-Caseates, Ana-Belén; Aranda-García, Ana; Rausell-Rausell, Víctor-José; Hernández-Martínez, Antonio-Miguel (ARAN EDICIONES, S L, 2017-05)
  • Estrategias para optimizar el uso de antibióticos en los hospitales 
    Gómez-Gómez, Joaquín; Bonillo-García, Cristina; Navarro, Luis-Humberto; Hernández-Torres, Alicia; García-Vázquez, Elisa (SOCIEDAD ESPANOLA QUIMIOTERAPIA, 2017-06)
  • Estudio ISCHEMIA: ¿una Victoria del tratamiento conservador en la enfermedad coronaria estable? 
    Consuegra-Sánchez, Luciano; Fernández-Berges, Daniel; López-Palop, Ramón (IOS Press BV, 2020)
  • Estudio multicéntrico de conciliación de la medicación en onco-hematología pediátrica 
    Cuervas-Mons-Vendrell, Margarita; Iturgoyen-Fuentes, Dolores-Pilar; Villaronga-Flaque, Miquel; Cabañas-Poy, María-José; Fernández-Llamazares, Cecilia-M; Álvarez-del-Vayo, Concha; Gallego-Fernández, Carmen; Roca-Martínez, Cristina; Hernández-Gago, Yolanda; Robles, Ana-García; Garrido-Corro, Beatriz (Elsevier B.V., 2023)
    OBJECTIVE: To determine the prevalence of reconciliation errors on admission to hospital in the pediatric onco-hematological population in order to check whether they are similarly susceptible to these reconciliation errors ...
  • Ethylbenzene Exposure and Bronchoalveolar CD4/CD8 T Cells in Hypersensitivity Pneumonitis Development and Clinical Outcome 
    Minguela-Puras, Alfredo; Campillo, José-Antonio; Aguilar-Sanchis, María-Isabel; Baeza-Caracena, Antonia; Esquembre, Francisco; Novoa-Bolívar, Erika-M; González-López, Rosana; Otalora, Almudena; Ortuño-Hernández, Cristina; López-Hernández, Ruth; Gimeno-Arias, Lourdes; Ruiz-Lorente, Inmaculada; Ceballos, Diana; Solana-Martínez, Elena; Alcantara-Fructuoso, Juan; Muro-Amador, Manuel; Ros, José-A (MDPI, 2025-10-24)
    Background: Hypersensitivity pneumonitis (HP) is an interstitial lung disease (ILD) characterized by inflammation of the lung parenchyma, alveoli and bronchioles induced by inhalation of organic compounds. Bird-related-HP ...
  • European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis 
    Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Genevieve; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fredwall, Svein; Guillén-Navarro, Encarna; Hoyer-Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio-B (BMC, 2023-07)
    Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted ...
  • European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia 
    Fredwall, Svein; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fauroux, Brigitte; Guillén-Navarro, Encarna; Innig, Florian; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio-B; Irving, Melita (Springer, 2024-07)
    Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, ...
  • European Society of Organ Transplantation (ESOT) Consensus Statement on Prehabilitation for Solid Organ Transplantation Candidates 
    Annema, Coby; De-Smet, Stefan; Castle, Ellen-M; Overloop, Yasna; Klaase, Joost-M; Janaudis-Ferreira, Tania; Mathur, Sunita; Kouidi, Evangelia; Pérez-Saez, María-José; Matthys, Christophe; Dobbels, Fabienne; Ferrari, Pisana; Golebiewska, Justyna; Mrzljak, Anna; Girman, Peter; Perch, Michael; López-López, Víctor; White, Colin; Koval, Dmytro; Greenwood, Sharlene; Monbaliu, Diethard (FRONTIERS MEDIA SA, 2023-07)
    There is increasingly growing evidence and awareness that prehabilitation in waitlisted solid organ transplant candidates may benefit clinical transplant outcomes and improve the patient's overall health and quality of ...
  • Evaluación del impacto del Documento de Consenso español sobre el abordaje de las infecciones osteoarticulares en nuestro medio a través de la Red de Infecciones Osteoarticulares Pediátricas (RIOPed) 
    Núñez-Cuadros, Esmeralda; Calvo-Rey, Cristina; Saavedra-Lozano, Jesús; Alcobendas-Rueda, Rosa; Clemente-Garulo, Daniel; Sanz-Santaeufemia, F-José; Martínez-Campos, Leticia; Tagarro-García, Alfredo; Fontecha, César-G; Melendo-Pérez, Susana; Camacho-Lovillo (ELSEVIER, 10.1016j.a)
    Introducción: En 2014 se publicó el Documento de Consenso desarrollado por SEIP-SERPE-SEOP para el diagnóstico y el tratamiento de las infecciones osteoarticulares (IOA). En 2015 se constituyó RIOPed como red nacional ...
  • Evaluate psychological effects of prolonged fasting in patients undergoing cardiac surgery 
    Moreno-Rodríguez, Jesús; Lorenzo-Díaz, Maydeline; Aranda-Domene, Ramón; Cánovas-López, Sergio-Juan; March-Salas, María; Alcaraz-García, María-José; Pérez-Morote, Jesús; Sánchez-Motos, Rosalía; Amor-Vigueras, Almudena; Ponce-de-Leon-Torralba, María; Alvizu-Aviles, José-María; Galindo-Rueda, María-del-Mar; Clemente-Murcia, María (ELSEVIER, 2026-01)
    Introduction: Comprehensive care of the cardiosurgical patient is essential to optimize clinical results. In this context, preoperative strategies play a key role, with accelerated recovery programs (ERAS) being a promising ...
  • EValuating the Effect of periopeRaTIve empaGliflOzin on cardiac surgery associated acute kidney injury: rationale and design of the VERTIGO study 
    Coca, Armando; Bustamante-Munguira, Elena; Fidalgo, Verónica; Fernández, Manuel; Abad, Cristina; Franco, Marta; González-Pinto, Ángel; Pereda, Daniel; Cánovas, Sergio; Bustamante-Munguira, Juan (OXFORD UNIV PRESS, 2024-08-13)
    BACKGROUND: Cardiac surgery-associated acute kidney injury (CSA-AKI) is a serious complication in patients undergoing cardiac surgery with extracorporeal circulation (ECC) that increases postoperative complications and ...

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