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Publicaciones UAX: Envíos recientes
Mostrando ítems 401-420 de 792
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A novel deletion involving the connexin-30 gene, del(GJB6- d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment del Castillo, F. J.; Rodríguez Ballesteros, M.; Álvarez, A.; Hutchin, T.; Leonardi, E.; de Oliveira, C. A.; Azaiez, Hela; Brownstein, Z.; Avenarius, M. R.; Marlin, S.; Pandya, A.; Shahin, H.; Siemering, K. R.; Weil, D.; Wuyts, W.; Aguirre, L.A.; Martín, Y.; Moreno Pelayo, Miguel Angel; Villamar, M.; Avraham, K. B.; Dahl, H-H M; Kanaan, M.; Nance, W. E.; Petit, C.; Smith, Richard J.H.; Van Camp, Guy; Sartorato, E. L.; Murgia, A.; Moreno, F.; del Castillo, I. Fecha: 2005 -
Therapeutic Management and Long-Term Outcome of Hy-Perthyroidism in Patients with Antithyroid-Induced Agranu-Locytosis: A Retrospective, Multicenter Study García Gómez, Carlos; Navarro, Elena; Alcázar, Victoria; López Guzmán, Antonio; Arrieta, Francisco; Anda, Emma; Biagetti, Betina; Guerrero Pérez, Fernando; Villabona, Carles; Ruiz de Assín Valverde, Andrés; Lamas, Cristina; Lecumberri, Beatriz; Rosado Sierra, Jose Antonio; Sastre, Julia; Diez, Juan José; Iglesias, Pedro Fecha: 2023 -
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice Lewis, Morag A; Quint, Elizabeth; Glazier, Anne M; Fuchs, Helmut; Hrabé De Angelis, Martin; Langford, Cordelia; van Dongen, Stijn; Abreu Goodger, Cei; Piipari, Matias; Redshaw, Nick; Dalmay, Tamas; Moreno Pelayo, Miguel Angel; Enright, Anton J; Steel, Karen P Fecha: 2009-05 -
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants Morín, Matías; Borreguero, Lucía; Booth, Kevin T.; Lachgar, María; Huygen, Patrick L.M.; Villamar, Manuela; Mayo, Fernando; Barrio, Luis Carlos; Santos Serrão de Castro, Luciana; Morales Angulo, Carmelo; del Castillo, Ignacio; Arellano, Beatriz; Tellería, Dolores; Smith, Richard J.H.; Azaiez, Hela; Moreno Pelayo, Miguel Angel Fecha: 2020 -
Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models López Huertas, María Rosa; Morín, Matías; Madrid Elena, Nadia; Gutiérrez, Carolina; Jiménez Tormo, Laura; Santoyo, Javier; Sanz Rodríguez, Francisco; Moreno Pelayo, Miguel Angel; García Bermejo, Laura; Moreno, Santiago Fecha: 2019-09 -
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Shen, Jun; Oza, Andrea M.; del Castillo, Ignacio; Moreno Pelayo, Miguel Angel Fecha: 2019-11 -
ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs DiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Y. Hughes, Madeline; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; ClinGen Hearing Loss Clinical Domain Working Group; Moreno Pelayo, Miguel Angel Fecha: 2009-06 -
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia Tarilonte, María; Morín, Matías; Ramos, Patricia; Galdós, Marta; Blanco Kelly, Fiona; Villaverde, Cristina; Rey Zamora, Dolores; Rebolleda, Gema; Muñoz Negrete, Francisco J.; Tahsin Swafiri, Saoud; Gener, Blanca; Moreno Pelayo, Miguel Angel; Ayuso, Carmen; Villamar, Manuela; Corton, Marta Fecha: 2018-10 -
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 Zazo Seco, Celia; Serrao de Castro, Luciana; van Nierop, Josephine W.; Morín, Matías; Jhangiani, Shalini; Verver, Eva J.J.; Schraders, Margit; Maiwald, Nadine; Wesdorp, Mieke; Venselaar, Hanka; Spruijt, Liesbeth; Oostrik, Jaap; Schoots, Jeroen; Baylor-Hopkins Center for Mendelian Genomics; van Reeuwijk, Jeroen; Lelieveld, Stefan H.; Huygen, Patrick L.M.; Insenser, María; Admiraal, Ronald J.C.; Pennings, Ronald J.E.; Hoefsloot, Lies H.; Arias Vásquez, Alejandro; de Ligt, Joep; Yntema, Helger G.; Jansen, Joop H.; Muzny, Donna M.; Huls, Gerwin; van Rossum, Michelle M.; Lupski, James R.; Moreno Pelayo, Miguel Angel; Kunst, Henricus P.M.; Kremer, Hannie Fecha: 2015-11 -
Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane Kevin Legan, P.; Goodyear, Richard J.; Morín, Matías; Mencía, Ángeles; Pollard, Hilary; Olavarrieta, Leticia; Korchagina, Julia; Modamio Høybjør, Silvia; Mayo, Fernando; Moreno, Felipe; Moreno Pelayo, Miguel Angel; Richardson, Guy P. Fecha: 2014 -
A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment Gandía, Marta; del Castillo, Francisco J.; Rodríguez Álvarez, Francisco J.; Garrido, Gema; Villamar, Manuela; Calderón, Manuela; Moreno Pelayo, Miguel Angel; Moreno, Felipe; del Castillo, Ignacio Fecha: 2013-09 -
A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID Gil, Juana; Busto, Elena M.; Garcillán, Beatriz; Chean, Carmen; García Rodríguez, Maria Cruz; Díaz Alderete, Andrea; Navarro, Joaquín; Reiné, Jesús; Mencía, Ángeles; Gurbindo, Dolores; Beléndez, Cristina; Gordillo, Isabel; Duchniewicz, Marlena; Höhne, Kerstin; García Sánchez, Félix; Fernández Cruz, Eduardo; López Granados, Eduardo; Schamel, Wolfgang W.A.; Moreno Pelayo, Miguel Angel; Recio, María J.; Regueiro, José R. Fecha: 2011-10 -
DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss Hildebrand, Michael S.; Morín, Matías; Meyer, Nicole C.; Mayo, Fernando; Modamio Høybjør, Silvia; Mencía, Ángeles; Olavarrieta, Leticia; Morales Angulo, Carmelo; Nishimura, Carla J.; Workman, Heather; DeLuca, Adam P.; del Castillo, Ignacio; Taylor, Kyle R.; Tompkins, Bruce; Goodman, Corey W.; Schrauwen, Isabelle; Van Wesemael, Maarten; Lachlan, K.; Shearer, A. Eliot; Braun, Terry A.; Huygen, Patrick L.M.; Kremer, Hannie; Van Camp, Guy; Moreno, Felipe; Casavant, Thomas L.; Smith, Richard J.H.; Moreno Pelayo, Miguel Angel Fecha: 2011-07 -
A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor¿Mediated Cell Signaling, Causes Progressive Hearing Loss Modamio Høybjør, Silvia; Mencía, Ángeles; Goodyear, Richard J.; del Castillo, Ignacio; Richardson, Guy P.; Moreno, Felipe; Moreno Pelayo, Miguel Angel Fecha: 2007-06 -
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Proteomic analysis of human vessels: Application to atherosclerotic plaques Duran, Mari Carmen; Mas, Sebastian; Martin Ventura, José Luis; Meilhac, Olivier; Michel, Jean Baptiste; Gallego Delgado, Julio; Lázaro, Alberto; Tuñon, José; Egido, Jesús; Vivanco, Fernando -
Isolation of circulating human monocytes with high purity for proteomic analysis González Barderas, María; Gallego Delgado, Julio; Mas, Sebastian; Duran, Mari Carmen; Lázaro, Alberto; Hernández Mérida, Sergio; Egido, Jesús; Vivanco, Fernando -
Assessment of exposure-response relationship for bevacizumab in patients with metastatic colorectal cancer Pena Cabia, Silvia; Royuela Vicente, Ana; Ramos Díaz, Ruth; Gutiérrez Nicolás, Fernando; Peñalver Vera, Ángela; Siso García, Isabel; Hitt Sabag, Ricardo; García Lacalle, Concepción; Peña Cabia, Ana; Iglesias Peinado, Irene; García Díaz, Benito; López Martín, Ana Fecha: 2021-06 -
Mouse Model of Microembolic Stroke and Reperfusion Atochin, Dmitriy; Murciano, Juan Carlos; Gursoy-Özdemir, Y.; Krasik, Tatiana; Noda, F.; Ayata, C.; Dunn, A.K.; Moskowitz, M.A.; Huang, Paul L.; Muzykantov, Vladimir R. Fecha: 2004 -
Blood Clearance and Activity of Erythrocyte-Coupled Fibrinolytics Ganguly, Kumkum; Krasik, Tatiana; Medinilla, Sandra; Bdeir, Khalil; Cines, Douglas B.; Muzykantov, Vladimir R.; Murciano, Juan Carlos Fecha: 2005
Mostrando ítems 401-420 de 792