Browsing by Subject Genètica molecular humana

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Showing results 1 to 16 of 16
Issue DateTitleAuthor(s)
13-Jun-2017Análisis Genómico de Fenotipos de la Hemostasia Relacionados con la Enfermedad Tromboembólica VenosaMartín Fernández, Laura
24-Nov-2004Cerca i identificació del gen de retinitis pigmentària autosòmica recessiva del locus RP26Tusón Segarra, Miquel
4-Nov-2021Combining exome sequencing and functional studies to identify causal genes of ultra-rare neurodevelopmental disordersCastilla-Vallmanya, Laura
12-Aug-2015Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidatesBoloc, Daniel; Castillo-Lara, Sergio; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser; Abril Ferrando, Josep Francesc, 1970-
2015EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndromeCanals Montferrer, Isaac; Benetó, Noelia; Cozar, Mónica; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl
11-Oct-2013Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targetsPaco Mercader, Sonia; Kalko, Susana; Jou, Cristina; Rodríguez, María Angeles; Corbera, Joan; Muntoni, Francesco; Feng, Lucy; Rivas, Eloy; Torner Rubies, Ferran; Gualandi, Francesca; Gomez-Foix, Anna M.; Ferrer, Anna; Ortez, Carlos Ignacio; Nascimento, Andrés; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia
12-May-2015Genetic association study of coronary collateral circulation in patients with coronary artery disease using 22 single nucleotide polymorphisms corresponding to 10 genes involved in postischemic neovascularizationDuran i Ferrer, Joan, 1978-; Sánchez Olavarría, María Pilar; Mola, Marina; Götzens García, Víctor José; Carballo, Julio; Martín Pelegrina, Eva; Petit, Màrius; Abdul Jawad, Omar; Otaegui, Imanol; García del Blanco, Bruno; García Dorado, David; Reig, Josep; Cordero, Alex; Anta i Vinyals, Josep Maria de
2008Genetic interactions: the missing links for a better understanding of cancer susceptibility, progression and treatmentMaxwell, Christopher A.; Moreno Aguado, Víctor; Solé Acha, Xavier; Gómez Baldó, Laia; Hernández, Pilar; Urruticoechea Ribate, Ander; Pujana Genestar, M. Ángel
17-Jul-2015Genètica molecular de l'autisme: recerca de variants de susceptibilitat i estudis funcionalsTorrico Avilés, Bàrbara
15-Jul-2015Gens i migranya. Anàlisi mutacional i estudis d'associació en pacientsSintas Vives, Cèlia
18-Nov-2019Identification and functional characterization of genetic loci involved in osteoporosis and atypical femoral fractureRoca Ayats, Neus
1-Sep-2017Identification of an immune-specific class of Hepatocellular Carcinoma, based on molecular featuresSia, Daniela; Jiao, Yang; Martínez Quetglas, Iris; Kuchuk, Olga; Villacorta Martin, Carlos; de Moura, Manuel Castro; Putra, Juan; Campreciós Figueras, Genís; Bassaganyas, Laia; Akers, Nicholas; Losic, Bojan; Waxman, Samuel; Thung, Swan N.; Mazzaferro, Vincenzo; Esteller, Manel; Friedman, Scott L.; Schwartz, Myron; Villanueva, Augusto; Llovet i Bayer, Josep Maria
25-Nov-2014Impacto de las alteraciones moleculares en el pronóstico de la Leucemia Mieloide Aguda (LMA) "de novo"Hoyos Colell, Montserrat
15-Jan-2020Intratumoral heterogeneity and clonal evolution in liver cancerLosic, Bojan; Craig, Amanda J.; Villacorta-Martin, Carlos; Martins-Filho, Sebastiao N.; Akers, Nicholas; Chen, Xintong; Ahsen, Mehmet Eren; von Felden, Johann; Labgaa, Ismail; Avola, Delia D'; Allette, Kimaada; Lira, Sergio A.; Furtado, Glaucia C.; Garcia-Lezana, Teresa; Restrepo, Paula; Stueck, Ashley; Ward, Stephen C.; Fiel, Maria I.; Hiotis, Spiros P.; Gunasekaran, Ganesh; Sia, Daniela; Schadt, Eric E.; Sebra, Robert; Schwartz, Myron; Llovet i Bayer, Josep Maria; Thung, Swan N.; Stolovitzky, Gustavo; Villanueva, Augusto
23-Jan-2017Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entityMoeini, Agrin; Sia, Daniela; Zhang, Zhongyang; Campreciós Figueras, Genís; Stueck, Ashley; Dong, Hui; Montal, Robert; Torrens, Laura; Martínez Quetglas, Iris; Fiel, Maria Isabel; Hao, Ke; Villanueva, Augusto; Thung, Swan N.; Schwartz, Myron; Llovet i Bayer, Josep Maria
11-Sep-2015The lincRNA HOTAIRM1, located in the HOXA genomic region, is expressed in acute myeloid leukemia, impacts prognosis in patients in the intermediate-risk cytogenetic category, and is associated with a distinctive microRNA signatureDíaz Beyà, Marina; Brunet, Salut; Nomdedéu Guinot, Josep Francesc; Pratcorona, Marta; Cordeiro Santanach, Anna; Gallardo Giralt, David; Escoda, Lourdes; Tormo, Mar; Heras, Inmaculada; Ribera, Josep Maria; Duarte, Rafael; Queipo de Llano, María Paz; Bargay, Joan; Sampol, Antonia; Nomdedeu i Fàbrega, Meritxell; Risueño, Ruth M.; Hoyos Colell, Montserrat; Sierra Gil, Jorge; Monzó Planella, Mariano; Navarro Ponz, Alfons; Esteve Reyner, Jordi