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Listar 02.01.01. Investigación y comunicación científica por título

Listar 02.01.01. Investigación y comunicación científica por título

Ordenar por:Orden:Resultados:

  • Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder 
    Medico-Salsench, Eva; Maroofian, Reza; Deng, Ruizhi; Lanko, Kristina; Nikoncuk, Anita; Pérez, Belén; Sánchez-Lijarcio, Obdulia; Ibáñez-Mico, Salvador; Wojcik, Antonina; Vargas, Marcelo; Abbas-Al-Sannaa, Nouriya; Girgis, Marian-Y; Silveira, Tainá-Regina-Damaceno; Bauer, Peter; Schroeder, Audrey; Fong, Chin-To; Begtrup, Amber; Babaei, Meisam; Toosi, Mehran-Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Doosti, Mohammad; Ahangari, Najmeh; Najarzadeh-Torbati, Paria; Ghayoor-Karimiani, Ehsan; Murphy, David; Cali, Elisa; Kaya, Ibrahim-H; Almuhaizea, Mohammad; Colak, Dilek; Cardona-Londoño, Kelly-J; Arold, Stefan-T; Houlden, Henry; Bertoli-Avella, Aida; Kaya, Namik; Barakat, Tahsin-Stefan (Oxford University Press, 2021)
  • Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis 
    Marakhonov, Andrey; Voskresenskaya, Anna-A; Ballesta, María-José; Konovalov, Fedor-A; Vasilyeva, Tatyana-A; Blanco-Kelly, Fiona; Pozdeyeva, Nadezhda-A; Kadyshev, Vitaly-V; López-González, Vanesa; Guillén-Navarro, Encarna; Ayuso, Carmen; Zinchenko, Rena-A; Corton, Marta (BMC, 2020-08-13)
    BACKGROUND: Mutations in CRYAA, which encodes the ?-crystallin protein, are associated with a spectrum of congenital cataract-microcornea syndromes. RESULTS: In this study, we performed clinical examination and subsequent ...
  • Experience with tocilizumab in patients with neuromyelitis optica spectrum disorders 
    Carreón-Guarnizo, Ester; Hernández-Clares, Rocío; Castillo-Trivino, T; Meca-Lallana, Virginia; Arocas-Casan, V; Iniesta-Martínez, F; Olascoaga-Urtaza, J; Meca-Lallana, José-Eustasio (ELSEVIER ESPANA SLU, 2022-04)
    INTRODUCTION: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system involving astrocytes, B lymphocytes, anti-aquaporin 4, and such inflammatory mediators ...
  • Expert consensus for the management of patients with achondroplasia in treatment with vosoritide 
    Barreda-Bonis, Ana-Coral; de-Bergua-Domingo, Josep-María; Galán-Gómez, Enrique; Guillén-Navarro, Encarna; Leiva-Gea, Isabel; Riaño-Galán, Isolina (EDICIONES DOYMA S A, 2024-12)
    INTRODUCTION: Patients with achondroplasia present, in addition to disproportionate short stature, multiple manifestations that require a comprehensive approach. The present consensus of experts in Spain responds to the ...
  • Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children 
    Galindo-Zavala, Rocío; Bou-Torrent, Rosa; Magallares-López, Berta; Mir-Perelló, Concepción; Palmou-Fontana, Natalia; Sevilla-Pérez, Belén; Medrano-San-Ildefonso, Marta; González-Fernández, María-Isabel; Román-Pascual, Almudena; Alcañiz-Rodríguez, Paula; Nieto-González, Juan-Carlos; López-Corbeto, Mireia; Granã-Gil, Jenaro (BioMed Central Ltd., 2020)
    BACKGROUND: Osteoporosis incidence in children is increasing due to the increased survival rate of patients suffering from chronic diseases and the increased use of drugs that can damage bones. Recent changes made to the ...
  • Expert recommendations about the use of gadoxetic acid in patients with liver metastases in Spain 
    Borrego-Gómez, J; Romera, N; Tellado, JM; del-Campo, L; Díaz-Formoso, J; Fuster, M; Vivas, I; Ramón-Botella, E; Menéndez-de-Llano-Ortega, R (ELSEVIER ESPANA, 2022-07)
    BACKGROUND AND AIMS: Magnetic resonance imaging (MRI) with gadoxetic acid is widely used in clinical practice in Spain for the diagnosis, treatment, and follow-up of patients with liver metastases, although its use varies. ...
  • Explainable artificial intelligence prediction-based model in laparoscopic liver surgery for segments 7 and 8: an international multicenter study 
    López-López, Víctor; Morise, Zeniche; Albadalejo-González, Mariano; Gómez-Gavara, Concepción; Goh, Brian-KP; Koh, Ye-Xin; Paul, Sijberden-Jasper; Hilal, Mohammed-Abu; Mishima, Kohei; Kruerger, Jaime-Arthur-Pirola; Herman, Paulo; Cerezuela, Álvaro; Brusadin, Roberto; Kaizu, Takashi; Luján, Juan; Rotellar, Fernando; Monden, Kazuteru; Dalmau, Mar; Gotohda, Naoto; Kudo, Masashi; Kanazawa, Akishige; Kato, Yutaro; Nitta, Hiroyuki; Amano, Satoshi; Valle, Raffaele-Dalla; Giuffrida, Mario; Ueno, Masaki; Otsuka, Yuichiro; Asano, Daisuke; Tanabe, Minoru; Itano, Osamu; Minagawa, Takuya; Eshmuminov, Dilmurodjon; Herrero, Irene; Ramírez, Pablo; Ruiperez-Valiente, José-A; Robles-Campos, Ricardo; Wakabayashi, Go (Springer, 2024-04)
    BACKGROUND: Artificial intelligence (AI) is becoming more useful as a decision-making and outcomes predictor tool. We have developed AI models to predict surgical complexity and the postoperative course in laparoscopic ...
  • Exploratory case-control study on childhood cancer near the Mar Menor lagoon Region of Murcia (Spain) 2000 to 2018 
    Ojeda-Sánchez, Carlos; Ramis, Rebeca; Fernández-Avilés, Gema; Díaz-Martínez, Francisco; Orenes-Piñero, Esteban; Ortega-García, Juan-Antonio (BMC, 2024-07)
  • Exploratory Cost-Effectiveness of a Novel Bioprosthetic Valve for Surgical Aortic Valve Replacement in Spain 
    Ascaso, María; Pérez, Daniel; Montero, Lourdes; Deckert, Jens; White, Andrea; González, Paloma; Mengual, Marta; Lorenzo-Herrero, Seila; Crespo, Carlos; Cánovas-López, Sergio (SPRINGER INT PUBL AG, 2025-09)
    OBJECTIVES: Limited information is available regarding the impact of valve choice for patients with aortic stenosis (AS) undergoing surgical aortic valve replacement (SAVR) in Spain. Herein, we aimed to explore the potential ...
  • EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms 
    Cassiman, David; Kauppinen, Raili; Monroy, Susana; Lee, Ming-Jen; Bonkovsky, Herbert-L; Thapar, Manish; Guillén-Navarro, Encarna; Minder, Anna-Elisabeth; Hale, Cecilia; Sweetser, Marianne-T; Ivanova, Aneta (Wiley, 2022-11)
    One-year data from EXPLORE Part A showed high disease burden and impaired quality of life (QOL) in patients with acute hepatic porphyria (AHP) with recurrent attacks. We report baseline data of patients who enrolled in ...
  • Exploring Blue Spaces' Effects on Childhood Leukaemia Incidence: A Population-Based Case-Control Study in Spain 
    Ojeda-Sánchez, Carlos; García-Pérez, Javier; Gómez-Barroso, Diana; Domínguez-Castillo, Alejandro; Pardo-Romaguera, Elena; Canete, Adela; Ortega-García, Juan-Antonio; Ramis, Rebeca (MDPI, 2022-05)
    BACKGROUND: Blue spaces have been a key part of human evolution, providing resources and helping economies develop. To date, no studies have been carried out to explore how they may be linked to paediatric oncological ...
  • Exploring nurses' experiences with a school-located influenza vaccination program: A qualitative study in the region of Murcia, Spain 
    Perez Martin, Jaime; Zornoza Moreno, Matilde; Martinez Ruiz, Marina; Robles Manueco, Marta (TAYLOR & FRANCIS INC, 2025-12-31)
    A cross-sectional qualitative pilot study was designed to assess the nurses' perspectives regarding a school-located influenza vaccination pilot program. The program was developed during the 2022-2023 season in the Region ...
  • Exploring the Immunoresponse in Bladder Cancer Immunotherapy 
    Ruiz-Lorente, Inmaculada; Gimeno, Lourdes; López-Abad, Alicia; López-Cubillana, Pedro; Fernández, Aparicio; Asensio-Egea, Lucas-Jesús; Moreno-Avilés, Juan; Donate-Iñíguez, Gloria; Guzmán-Martínez-Valls, Pablo-Luis; Server-Gómez, Gerardo; Escudero-Bregante, José-Félix; Ferri, Belén; Campillo, José-Antonio; Pons-Fuster, Eduardo; Martínez-Hernández, María-Dolores; Martínez-Sánchez, María-Victoria; Ceballos, Diana; Minguela-Puras, Alfredo (MDPI, 2024-12)
    Bladder cancer (BC) represents a wide spectrum of diseases, ranging from recurrent non-invasive tumors to advanced stages that require intensive treatments. BC accounts for an estimated 500,000 new cases and 200,000 deaths ...
  • Exploring the Relation between Atopic Diseases and Lifestyle Patterns among Adolescents Living in Greece: Evidence from the Greek Global Asthma Network (GAN) Cross-Sectional Study 
    Antonogeorgos, George; Priftis, Kostas-N; Panagiotakos, Demosthenes-B; Ellwood, Philippa; García-Marcos, Luis; Liakou, Evangelia; Koutsokera, Alexandra; Drakontaeidis, Pavlos; Moriki, Dafni; Thanasia, Marina; Mandrapylia, María; Douros, Konstantinos (MDPI, 2021-10)
    INTRODUCTION: Diet and physical activity might be associated with the risk of allergic diseases in childhood. However, evidence in literature is sparse and diverse. We aim to examine the associations between four healthy ...
  • Exploring Urban Green Spaces' Effect against Traffic Exposure on Childhood Leukaemia Incidence 
    Ojeda-Sánchez, Carlos; García-Pérez, Javier; Gómez-Barroso, Diana; Domínguez-Castillo, Alejandro; Pardo-Romaguera, Elena; Cañete, Adela; Ortega-García, Juan-Antonio; Ramis, Rebeca (MDPI, 2023)
    BACKGROUND: Several environmental factors seem to be involved in childhood leukaemia incidence. Traffic exposure could increase the risk while urban green spaces (UGS) exposure could reduce it. However, there is no evidence ...
  • Exposure to Sulfur Hexafluoride Influences Viability in Cell Transplant Suspensions 
    Martínez-Alarcón, Laura; Liarte, Sergio; Abellaneda-Bernal, Juana-María; Quereda, Juan-J; Mendonca, Livia; Muñoz, Antonio; Ramírez, Pablo; Ramis-Vidal, Guillermo (MDPI, 2025-10-31)
    Cell transplantation is often performed with ultrasonographic guidance for accurate delivery through injection. In such procedures, using ultrasonographic contrast greatly improves target delivery. However, accumulating ...
  • Exposure to Yeast Shapes the Intestinal Bacterial Community Assembly in Zebrafish Larvae 
    Siriyappagouder, Prabhugouda; Galindo-Villegas, Jorge; Lokesh, Jep; Mulero, Víctoriano; Fernandes, Jorge-M-O; Kiron, Viswanath (FRONTIERS MEDIA SA, 2018-08-14)
    Establishment of the early-life gut microbiota has a large influence on host development and succession of microbial composition in later life stages. The effect of commensal yeasts - which are known to create a conducive ...
  • Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos 
    Sánchez-Soler, María-José; Serrano-Antón, Ana-Teresa; López-González, Vanesa; Ballesta-Martínez, María-Juliana; Guillén-Navarro, Encarna (Asociacion Espanola de Pediatria, 2022)
  • Expression of DOCK9 and DOCK11 Analyzed with Commercial Antibodies: Focus on Regulation of Mutually Exclusive First Exon Isoforms 
    Parrado, Antonio (MDPI, 2020-09)
    Dedicators of cytokinesis 9 and 11 (DOCK9 and DOCK11) are members of the dedicator of cytokinesis protein family encoding the guanosine nucleotide exchange factors for Rho GTPases. Together with DOCK10, they constitute the ...
  • Expression of inhibitory receptors and polyfunctional responses of T cells are linked to the risk of congenital transmission of T-cruzi 
    Egui, Adriana; Lasso, Paola; Carmen-Thomas, María; Carrilero, Bartolomé; Mario-González, John; Cuellar, Adriana; Segovia-Hernández, Manuel; Judith-Puerta, Concepción; López, Manuel-Carlos (PUBLIC LIBRARY SCIENCE, 2017-06)
    Congenital T. cruzi infections involve multiple factors in which complex interactions between the parasite and the immune system of pregnant women play important roles. In this study, we used an experimental murine model ...

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