Browsing by Subject Genètica mèdica
Showing results 61 to 80 of 98
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| Issue Date | Title | Author(s) |
|---|---|---|
| 15-Nov-2023 | Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing | Pardos Gea, Jose; Martin Fernandez, Laura; Closa, Laia; Ferrero, Ainara; Marzo, Cristina; Rubio Rivas, Manuel; Mitjavila, Francesca; González Porras, José Ramón; Bastida, José María; Mateo, José; Carrasco, Marina; Bernardo, Ángel; Astigarraga, Itziar; Aguinaco, Reyes; Corrales, Irene; Garcia Martínez, Iris; Vidal, Francisco |
| 1-Jun-2016 | La ingesta materna de fructosa líquida acentúa la dislipemia que origina el consumo de fructosa en la descendencia de hembra adulta | Rodríguez, Lourdes; Panadero, María I.; Rodrigo, Silvia; Roglans i Ribas, Núria; Otero, Paola; Álvarez-Millán, Juan J.; Laguna Egea, Juan Carlos; Bocos, Carlos |
| 23-Mar-2015 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | Brito, Sara; Thompson, Kyle; Campistol Plana, Jaume; Colomer Oferil, Jaume; Hardy, Steven A.; Langping, He; Fernández Marmiesse, Ana; Palacios, Lourdes; Jou, Cristina; Jiménez Mallebrera, Cecilia; Armstrong i Morón, Judith; Montero Sánchez, Raquel; Artuch Iriberri, Rafael; Tischner, Christin; Wenz, Tina; McFarland, Robert; Taylor, Robert W. |
| 28-Sep-2023 | Lung immune signatures define two groups of end-stage IPF patients | Cruz, Tamara; Mendoza, Núria; Casas Recasens, Sandra; Noell, Guillaume; Hernandez Gonzalez, Fernanda; Frino Garcia, Alejandro; Alsina Restoy, Xavi; Molina, María; Rojas, Mauricio; Agustí, Alvar; Sellares, Jacobo; Faner, Rosa |
| 9-Oct-2017 | Maternal and fetal genetic contribution to gestational weight gain | Warrington, Nicole M.; Richmond, Rebecca C.; Fenstra, Bjarke; Myhre, Ronny; Gaillard, Romy; Paternoster, Lavinia; Wang, Carol A.; Beaumont, Robin N.; Das, Shikta; Murcia, Mario; Barton, Sheila J.; Espinosa Cardiel, Ana; Thiering, Elisabeth; Atalay, Mustafa; Pitkanen, Niina; Ntalla, Ioanna; Jonsson, Anna E.; Freathy, Rachel M.; Karhunen, Ville; Tiesler, Carla M. T.; Allard, Catherine; Crawford, Andrew; Ring, Susan M.; Melbye, Mads; Magnus, Per; Rivadeneira, Fernando; Skotte, Line; Hansen, Torben; Marsh, Julie A.; Guxens, Mònica; Holloway, John W.; Grallert, Harald; Jaddoe, Vincent W.; Lowe, William L.; Roumeliotaki, Theano; Hattersley, Andrew T.; Lindi, Virpi; Pahkala, Katja; Panoutsopoulou, Kalliope; Standl, Marie; Flexeder, Claudia; Bouchard, Luigi; Nohr, Ellen Aagard; Marina, Loreto Santa; Kogevinas, Manolis; Niinikoski, Harri; Dedoussis, George; Heinrich, Joachim; Reynolds, Rebecca M.; Lakka, Timo; Zeggini, Eleftheria; Raitakari, Olli T.; Chatzi, Leda; Inskip, Hazel M.; Bustamante Pineda, Mariona; Hivert, Marie-France; Jarvelin, Marjo-Riitta; Sorensen, Thorkild I. A.; Pennell, Craig E.; Felix, Janine F.; Jacobsson, Bo; Geller, Frank; Evans, David M.; Lawlor, Debbie A. |
| 14-Jul-2015 | MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project | Tagliabue, Elda; Fargnoli, Maria Concetta; Gandini, S.; Maisonneuve, P.; Liu, F.; Kayser, M.; Nijsten, T.; Han, Jiali; Kumar, Rajiv; Gruis, Nelleke A.; Ferrucci, L.; Branicki, W.; Dwyer, T.; Blizzard, L.; Helsing, P.; Autier, P.; García-Borrón, J.C.; Kanetsky, Peter A.; Landi, Maria Teresa; Little, J.; Newton-Bishop, Julia A.; Sera, F.; Raimondi, Susana; Puig i Sardà, Susana; M-SKIP Study Group |
| 22-Dec-2021 | Mecanismes implicats en la resposta inflamatòria i noves dianes terapèutiques en la COVID-19 | Solanich Moreno, Xavier |
| 28-Jan-2021 | Modeling neurofibromatosis type1 neurofibroma composition and formation | Mazuelas Gallego, Helena |
| 7-Apr-2022 | Modification of BRCA1-associated breast cancer risk by HMMR overexpression | Mateo, Francesca; He, Zhengcheng; Mei, Lin; Ruiz de Garibay, Gorka; Herranz, Carmen; García, Nadia; Lorentzian, Amanda; Baiges, Alexandra; Blommaert, Eline; Gómez, Antonio; Mirallas, Oriol; Garrido Utrilla, Anna; Palomero, Luis; Espín, Roderic; Extremera, Ana I.; Soler Monsó, M. Teresa; Petit, Anna; Li, Rong; Brunet, Joan; Chen, Ke; Tan, Susanna; Eaves, Connie J.; Mccloskey, Curtis; Hakem, Razq; Khokha, Rama; Lange, Philipp F.; Lázaro García, Conxi; Maxwell, Christopher A.; Pujana, Miquel Angel |
| 31-May-2017 | Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia | Sintas Vives, Cèlia; Carreño, Oriel; Fernàndez Castillo, Noèlia; Corominas Castiñeira, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca León, Ester; Barroeta, Isabel; Roig i Arnall, Carles; Volpini Bertrán, Víctor; Macaya Ruiz, Alfons; Cormand Rifà, Bru |
| 15-Jan-2021 | Mutational Landscape and tumor burden assessed by cell-free DNA in Diffuse Large B-Cell Lymphoma in a population-based study | Rivas Delgado, Alfredo; Nadeu, Ferran; Enjuanes, Anna; Casanueva Eliceiry, Sebastián; Mozas, Pablo; Magnano, Laura; Castrejón de Anta, Natalia; Rovira, Jordina; Dlouhy, I.; Martín, Silvia; Osuna, Miguel; Rodríguez, Sonia; Simó, Marc; Pinyol, Magda; Baumann, Tycho; Beà Bobet, Sílvia M.; Balagué, Olga; Delgado, Julio; Villamor i Casas, Neus; Setoain Perego, Xavier; Campo, Elías; Giné Soca, Eva; López Guillermo, Armando |
| 16-Mar-2017 | Myeloid C/EBPβ deficiency reshapes microglial gene expression and is protective in experimental autoimmune encephalomyelitis | Pulido Salgado, Marta; Vidal Taboada, José Manuel; García Díaz-Barriga, Gerardo A.; Serratosa i Serdà, Joan; Valente, Tony; Castillo, Paola; Matalonga, Jonathan; Straccia, Marco; Canals i Coll, Josep M.; Valledor Fernández, Annabel; Solà i Subirana, Carme; Saura Martí, Josep |
| 2-Sep-2014 | Neurotrophin receptor p75NTR mediates Huntington's disease-associated synaptic and memory dysfunction | Brito, Verónica; Giralt Torroella, Albert; Enriquez-Barreto, Lilian; Puigdellívol Cañadell, Maria del Mar; Suelves Caballol, Núria; Zamora-Moratalla, Alfonsa; Ballesteros, Jesús J.; Martín, Eduardo D.; Dominguez-Iturza, Nuria; Morales, Miguel; Alberch i Vié, Jordi; Ginés Padrós, Silvia |
| 5-Jan-2015 | NF-κB-direct activation of microRNAs with repressive effects on monocyte-specific genes is critical for osteoclast differentiation | Rica Lázaro, Lorenzo de la; García Gómez, Antonio; Comet, Natalia R.; Rodríguez Ubreva, Javier; Ciudad, Laura; Vento Tormo, Roser; Company, Carlos; Álvarez-Errico, Damiana; García, Mireia; Gómez Vaquero, Carmen; Ballestar Tarín, Esteban |
| 26-Feb-2021 | Paper dels factors neuronals SEMA3F i NTN1 en la transició de càncer de mama in situ a invasiu | Moragas Garcia, Núria |
| 26-Nov-2021 | Patient Privacy VS Autonomy of Patient’s Family Members in Modern Genetic Diagnostics | Makarova, Margarita |
| 28-Nov-2006 | PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease | Schlüter, Agatha; Fourcade, Stéphane; Domènech Estévez, Enric; Gabaldón, Toni; Huerta Cepas, Jaime; Berthommier, Guillaume; Ripp, Raymond; Wanders, Ronald J. A.; Poch, Olivier; Pujol Onofre, Aurora |
| 29-Jun-2021 | Phase Variation in HMW1A Controls a Phenotypic Switch in Haemophilus influenzae Associated with Pathoadaptation during Persistent Infection | Fernández Calvet, Ariadna; Euba, Begoña; Gil Campillo, Celia; Catalan Moreno, Arancha; Moleres, Javier; Martí Martí, Sara; Merlos, Alexandra; Langereis, Jeroen D.; García del Portillo, Francisco; Bakaletz, Lauren O.; Ehrlich, Garth D.; Porsch, Eric A.; Menéndez, Margarita; Mell, Joshua Chang; Toledo Arana, Alejandro; Garmendia, Junkal |
| 2-Oct-2018 | Piloting the implementation of genome-phenome analysis tools for Personalised Medicine (Seminaris Tecnològics 2018) | Beltran i Agulló, Sergi |
| 12-Sep-2012 | Plasma homocysteine and vitamin B12 serum levels, red blood cell folate concentrations, C677T methylenetetrahydrofolate reductase gene mutation and risk of recurrent miscarriage: a case-control study in Spain. | Creus Ferré, Montserrat; Deulofeu i Piquet, Ramon; Peñarrubia, Joanna; Carmona Herrera, Francisco; Balasch Cortina, Juan |