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Listar02.02.01. Investigación y comunicación científica por tema "Genotype"

Listar02.02.01. Investigación y comunicación científica por tema "Genotype"

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  • 250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation 
    Donald, A; Brothwell, S; Cabello, B-M; Ehrstedt, C; Fernández-Fructuoso, Jose-Ramón; Fernández-Marin, E; González-Lamuno, D; Lloreda-García, José-María; Lykopoulou, L; Mignot, C; Nurse, J; O'Sullivan, S; Persson, A-N; Raiman, J; Rajan, D-S; Uberos, J; Jones, S-A; Church, H-J (ACADEMIC PRESS INC ELSEVIER SCIENCE, 2025-06)
    'Type 2' Gaucher disease, also referred to as 'acute neuronopathic' or 'infantile' Gaucher disease is an aggressive subtype of Gaucher disease, resulting from pathogenic variants in GBA1. The spectrum of phenotype ranges ...
  • Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure 
    Mora-Ayestaran, Nerea; Ochoa, Juan-Pablo; Gómez-González, Cristina; Navarro-Peñalver, Marina; Gallego-Delgado, María; Larrañaga-Moreira, José-M; Robles-Mezcua, Ainhoa; Basurte-Elorz, María-Teresa; Rodríguez-Palomares, José-Fernando; Climent-Paya, Vicente; Jiménez-Jaimez, Juan; Mogollon-Jiménez, María-Victoria; García-Granja, Pablo-Elpidio; García-Álvarez, Ana; Peña-Peña, María-Luisa; Álvarez-Barredo, María; Ripoll-Vera, Tomas; Palomino-Doza, Julián; Bayes-Genis, Antoni; Tiron, Coloma; Fernández, Ana-Isabel; Sabater-Molina, María; Toranzo, Inés; Crespo-Leiro, María-G; Doncel-Abad, Victoria; Lacuey-Lecumberri, Gemma; Limeres-Freire, Javier; I; Cabrera-Borrego, Eva; Kounka-Ait-El-Maalem, Zineb; Vilches, Silvia; González-López, Esther; Villacorta, Eduardo; García-Pinilla, José-M; Barriales-Villa, Roberto; Gimeno-Blanes, Juan-Ramón; García-Pavia, Pablo; Domínguez, Fernando (OXFORD UNIV PRESS, 2025-12-22)
    BACKGROUND AND AIMS: Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients with high-risk arrhythmic genotypes also develop more advanced heart failure ...
  • Effectiveness, safety/tolerability of OBV/PTV/r ± DSV in patients with HCV genotype 1 or 4 with/without HIV-1 co-infection, chronic kidney disease (CKD) stage IIIb-V and dialysis in Spanish clinical practice - Vie-KinD study 
    Londono, Maria-Carlota; Riveiro-Barciela, Mar; Ahumada, Adriana; Muñoz-Gómez, Raquel; Roget, Merce; Devesa-Medina, María-J; Serra, Miguel-Angel; Navascues, Carmen-A; Baliellas, Carme; Aldamiz-Echevarria, Teresa; Gutiérrez, María-L; Polo-Lorduy, Benjamin; Carmona, Isabel; Benlloch, Salvador; Bonet, Lucía; García-Samaniego, Javier; Jiménez-Pérez, Miguel; Moran-Sánchez, Senador; Castro, Ngeles; Delgado, Manuel; Gea-Rodríguez, Francisco; Martín-Granizo, Ignacio; Montes, María-Luisa; Morano, Luis; Castaño, Manuel-A; de-los-Santos, Ignacio; Laguno, Montserrat; Losa, Juan-Emilio; Montero-Alonso, Marta; Rivero, Antonio; de-Álvaro, Cristina; Manzanares, Amanda; Mallolas, Josep; Barril, Guillermina; González-Parra, Emilio; García-Buey, Luisa (PUBLIC LIBRARY SCIENCE, 2019-09-24)
    BACKGROUND AND AIMS: Limited data are available on the effectiveness and tolerability of direct-acting antivirals (DAAs) therapies in the real world for HCV-infected patients with comorbidities. This study aimed to describe ...
  • IL7RA rs6897932 Polymorphism Is Associated with Better CD4+ T-Cell Recovery in HIV Infected Patients Starting Combination Antiretroviral Therapy 
    Resino, Salvador; Navarrete-Muñoz, María-A; Blanco, Julia; Pacheco, Yolanda-M; Castro, Ivan; Berenguer, Juan; Santos, Jesús; Vera-Mendez, Francisco-J; Gorgolas, Miguel; Jiménez-Sousa, Maria-Ángeles; Benito, José-M; Rallon, Norma; Moreno, Santiago; Jarrin, Inma; Dalmau, David; Navarro, María-Luisa; González, María-Isabel; Blanco, José-Luis; García, Federico; Rubio, Rafael; Iribarren, José-Antonio; Gutiérrez, Felix; Vidal, Francesc; González, Juan; Alejos, Belén; Hernando, Victoria; Moreno, Cristina; Iniesta, Carlos; García-Sousa, Luis-Miguel; Sanz-Pérez, Nieves; Muñoz-Fernández, Maria-Ángeles; García-Merino, Isabel-María; Consuegra-Fernández, Irene; Gómez-Rico, Coral; Gallego-de-la-Fuente, Jorge; Palau-Concejo, Paula; Portilla, Joaquín; Merino, Esperanza; Reus, Sergio; Boix, Vicente; Giner, Livia; Gadea, Carmen; Portilla, Irene; Pampliega, María; Díez, Marcos; Rodríguez, Juan-Carlos; Sánchez-Paya, José; Gómez, Juan-Luis; Hernández, Jehovana; Alemán, María-Remedios; Alonso, María-del-Mar; Hernández, María-Inmaculada; Díaz-Flores, Felicitas; García, Dacil; Pelazas, Ricardo; López-Lirola, Ana; Sanz-Moreno, José; Arranz-Caso, Alberto; Hernández-Gutiérrez, Cristina; Novella-Mena, María; Pulido, Federico; Bisbal, Otilia; Hernando, Asunción; Domínguez, Lourdes; Crestelo, David-Rial; Bermejo, Laura; Santacreu, Mireia; Arrizabalaga, Julio; Aramburu, María-José; Camino, Xabier; Rodríguez-Arrondo, Francisco; von-Wichmann, Miguel-Ángel; Pascual-Tome, Lidia; Goenaga, Miguel-Ángel; Bustinduy, María-Jesús; Azkune, Harkaitz; Ibarguren, Maialen; Lizardi, Aitziber; Kortajarena, Xabier; Masia, Mar; Padilla, Sergio; Navarro, Andrés; Montolio, Fernando; Robledano, Catalina; Gregori-Colome, Joan; Adsuar, Araceli; Pascual, Rafael; Fernández, Marta; García, Elena; García, José-Alberto; Barber, Xavier; López-Bernaldo-de-Quirós, Juan-Carlos; Gutiérrez, Isabel; Ramírez, Margarita; Padilla, Belén; Gijón, Paloma; Aldamiz-Echevarria, Teresa; Tejerina, Francisco; Parras, Francisco-José; Balsalobre, Pascual; Díez, Cristina; Pérez-Latorre, Leire; Peraire, Joaquín; Vilades, Consuelo; Veloso, Sergio; Vargas, Montserrat; López-Dupla, Miguel; Olona, Montserrat; Rull, Anna; Rodríguez-Gallego, Esther; Alba, Veronica; Montero-Alonso, Marta; López-Aldeguer, José; Blanes-Julia, Marino; Tasias-Pitarch, María; Castro-Hernández, Ivan; Calabuig-Muñoz, Eva; Cuellar-Tovar, Sandra; Salavert-Lleti, Miguel; Fernández-Navarro, Juan; González-García, Juan; Arnalich, Francisco; Arribas, José-Ramón; Bernardino-de-la-Serna, José-Ignacio; Castro, Juan-Miguel; Escosa, Luis; Herranz, Pedro; Hontanon, Víctor; García-Bujalance, Silvia; García-López-Hortelano, Milagros; González-Baeza, Alicia; Martín-Carbonero, María-Luz; Mayoral, Mario; Mellado, María-José; Esteban-Mican, Rafael; Montejano, Rocío; Montes, María-Luisa; Moreno, Victoria; Pérez-Valero, Ignacio; Rodes, Berta; Sainz, Talia; Sendagorta, Elena; Stella-Alcariz, Natalia; Valencia, Eulalia; Blanco, José-Ramón; Oteo, José-Antonio; Ibarra, Valvanera; Metola, Luis; Sanz, Mercedes; Pérez-Martínez, Laura; Jaen, Angels; Sanmarti, Montse; Cairo, Mireia; Martínez-Lacasa, Javier; Velli, Pablo; Font, Roser; Xercavins, Mariona; Alonso, Noemi; Rivero, María; Reparaz, Jesús; Ruiz-de-Alda, María-Gracia; de-León-Cano, María-Teresa; Ruiz-de-Galarreta, Beatriz-Pierola; Segura, Ferran; Amengual, María-José; Navarro, Gemma; Sala, Montserrat; Cervantes, Manuel; Pineda, Valentin; Calzado, Sonia; Navarro, Marta; de-los-Santos, Ignacio; Sanz-Sanz, Jesús; Salas-Aparicio, Ana; Sarria-Cepeda, Cristina; García-Fraile-Fraile, Lucio; Martín-Gayo, Enrique; Casado, José-Luis; Dronda, Fernando; Moreno, Ana; Pérez-Elías, María-Jesús; Gómez-Ayerbe, Cristina; Gutiérrez, Carolina; Madrid, Nadia; del-Campo-Terron, Santos; Marti, Paloma; Ansa, Uxua; Serrano, Sergio; Vivancos, María-Jesús; Bernal-Morell, Enrique; Cano, Alfredo; Alcaraz-García, Antonia; Bravo-Urbieta, Joaquín; Muñoz, Ángeles; Alcaraz, María-José; Villalba, María-del-Carmen; Hernández, José; Peña, Alejandro; Muñoz, Leopoldo; Casas, Paz; Álvarez, Marta; Chueca, Natalia; Vinuesa, David; Martínez-Montes, Clara; del-Romero, Jorge; Rodríguez, Carmen; Puerta, Teresa; Carrio, Juan-Carlos; Vera, Mar; Ballesteros, Juan; Ayerdi, Oskar; Riera, Melchor; Penaranda, María; Leyes, María; Ribas, María-Angels; Campins, Antoni-A; Vidal, Carmen; Fanjul, Francisco; Murillas, Javier; Homar, Francisco; Gómez-Ayerbe, Crisitina; Viciana, Isabel; Palacios, Rosario; González, Carmen-María; Viciana, Pompeyo; Espinosa, Nuria; López-Cortés, Luis-Fernando; Podzamczer, Daniel; Ferrer, Elena; Imaz, Arkaitz; Tiraboschi, Juan; Silva, Ana; Saumoy, María; Olalla, Julián; del-Arco, Alfonso; de-la-Torre, Javier; Prada, José-Luis; García-de-Lomas-Guerrero, José-María; Pérez-Stachowski, Javier; Juan-Martínez, Onofre; Vera, Francisco-Jesús; Martínez, Lorena; García, Josefina; Alcaraz, Begoña; Jimeno-Almazán, Amaya; Castro-Iglesias, Ángeles; Pernas-Souto, Berta; Mena-de-Cea, Álvaro; Galera-Peñaranda, Carlos; Albendin, Helena; Pérez, Aurora; Iborra, Asunción; Moreno, Antonio; Merlos, María-Angustias; Vidal, Asunción; Suárez-García, Ines; Malmierca, Eduardo; González-Ruano, Patricia; Martín-Rodrigo, Dolores; Ruiz-Seco, María-Pilar; Omar-Mohamed-Balghata, Mohamed; Gómez-Vidal, María-Amparo; Estrada-Pérez, Vicente; Tellez-Molina, María-Jesús; Vergas-García, Jorge; Pérez-Somarriba-Moreno, Juncal; Cabello, Alfonso; Álvarez, Beatriz; Prieto, Laura; Galindo-Puerto, María-José; Vilalta, Ramón-Fernando; Ferrer-Ribera, Ana; Rivero-Roman, Antonio; Brieva-Herrero, María-Teresa; Rivero-Juárez, Antonio; López-López, Pedro; Machuca-Sánchez, Isabel; Peña-Martínez, José; Cervero-Jiménez, Miguel; Torres-Perea, Rafael; Jusdado-Ruiz-Capillas, Juan-Jose; Pineda, Juan-A (MDPI, 2019-06)
    Interleukin-7 receptor subunit alpha (IL7RA) rs6897932 polymorphism is related to CD4(+) recovery after combination antiretroviral therapy (cART), but no studies so far have analyzed its potential impact in patients with ...
  • Increasing importance of European lineages in seeding the hepatitis C virus subtype 1a epidemic in Spain 
    Pérez, Ana-Belén; Vrancken, Bram; Chueca, Natalia; Aguilera, Antonio; Reina, Gabriel; García-Del-Toro, Miguel; Vera, Francisco; Von-Wichman, Miguel-Ángel; Arenas, Juan-Ignacio; Téllez, Francisco; Pineda, Juan-A; Omar, Mohamed; Bernal-Morell, Enrique; Rivero-Juárez, Antonio; Fernández-Fuertes, Elisa; de-la-Iglesia, Alberto; Pascasio, Juan-Manuel; Lemey, Philippe; García, Féderico; Cuypers, Lize (EUR CENTRE DIS PREVENTION & CONTROL, 2019-02-28)
    BackgroundReducing the burden of the hepatitis C virus (HCV) requires large-scale deployment of intervention programmes, which can be informed by the dynamic pattern of HCV spread. In Spain, ongoing transmission of HCV is ...
  • NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium 
    Sánchez-Maldonado, José-Manuel; Martínez-Bueno, Manuel; Canhao, Helena; ter-Horst, Rob; Muñoz-Pena, Sonia; Moniz-Díez, Ana; Rodríguez-Ramos, Ana; Escudero, Alejandro; Sorensen, Signe-B; Hetland, Merete-L; Ferrer, Miguel-A; Glintborg, Bente; Filipescu, Ileana; Pérez-Pampín, Eva; Conesa-Zamora, Pablo; García, Antonio; den-Broeder, Alfons-A; de-Vita, Salvatore; Jacobsen, Svend-Erik-Hove; Collantes, Eduardo; Quartuccio, Luca; Netea, Mihai-G; Li, Yang; Fonseca, Joao-E; Jurado, Manuel; López-Nevot, Miguel-Ángel; Coenen, Marieke-JH; Andersen, Vibeke; Cáliz, Rafael; Sainz, Juan (NATURE PORTFOLIO, 2020-03)
    This study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We ...
  • Prevalence of resistance associated substitutions and efficacy of baseline resistance-guided chronic hepatitis C treatment in Spain from the GEHEP-004 cohort 
    Belén-Pérez, Ana; Chueca, Natalia; Macias, Juan; Pineda, Juan-Antonio; Salmeron, Javier; Rivero-Juarez, Antonio; Hidalgo-Tenorio, Carmen; Espinosa, María-Dolores; Tellez, Francisco; von-Wichmann, Miguel-Ángel; Omar, Mohamed; Santos, Jesús; Hernández-Quero, José; Joaquin-Anton, José; Collado, Antonio; Belén-Lozano, Ana; García-Deltoro, Miguel; Casado, Marta; Pascasio, Juan-Manuel; Selfa, Aida; Miguel-Rosales, José; de-la-Iglesia, Alberto; Ignacio-Arenas, Juan; García-Bujalance, Silvia; Rios, María-José; Bernal-Morell, Enrique; Martínez, Onofre; García-Herola, Antonio; Velez, Mónica; Rincon, Pilar; García, Federico (PUBLIC LIBRARY SCIENCE, 2019-08-30)
    Treatment guidelines differ in their recommendation to determine baseline resistance associated substitutions (RAS) before starting a first-line treatment with direct-acting antivirals (DAAs). Here we analyze the efficacy ...
  • Validation of GWAS-Identified Variants for Anti-TNF Drug Response in Rheumatoid Arthritis: A Meta-Analysis of Two Large Cohorts 
    Sánchez-Maldonado, José-Manuel; Cáliz, Rafael; López-Nevot, Miguel-Ángel; Cabrera-Serrano, Antonio-José; Moniz-Díez, Ana; Canhao, Helena; Ter-Horst, Rob; Quartuccio, Luca; Sorensen, Signe-B; Glintborg, Bente; Hetland, Merete-L; Filipescu, Ileana; Pérez-Pampín, Eva; Conesa-Zamora, Pablo; Swierkot, Jerzy; den-Broeder, Alfons-A; de-Vita, Salvatore; Brix-Petersen, Eva-Rabing; Li, Yang; Ferrer, Miguel-A; Escudero, Alejandro; Netea, Mihai-G; Coenen, Marieke-JH; Andersen, Vibeke; Fonseca, Joao-E; Jurado, Manuel; Bogunia-Kubik, Katarzyna; Collantes, Eduardo; Sainz, Juan (FRONTIERS MEDIA SA, 2021-10)
    We aimed to validate the association of 28 GWAS-identified genetic variants for response to TNF inhibitors (TNFi) in a discovery cohort of 1361 rheumatoid arthritis (RA) patients monitored in routine care and ascertained ...

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