Výsledky vyhledávání - Miguel A. Moreno‐Pelayo

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  1. 1
    A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

    A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment Autor Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo, Francisco Castillo, Araceli Álvarez, Dolores Tellerı́a, Ibis Menéndez, Felipe Moreno

    Vydáno 2002
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  2. 2
    A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss

    A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss Autor Silvia Modamio‐Høybjør, Ángeles Mencía, Richard J. Goodyear, Ignacio del Castillo, Guy P. Richardson, Felipe Moreno, Miguel A. Moreno‐Pelayo

    Vydáno 2007
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  3. 3
    Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

    Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane Autor P. Kevin Legan, Richard J. Goodyear, Matías Morin, A. Mencia, Hannah Pollard, Leticia Olavarrieta, Julia Korchagina, Silvia Modamio‐Høybjør, Fernando Mayo, Felipe Moreno, Miguel A. Moreno‐Pelayo, Guy P. Richardson

    Vydáno 2013
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  4. 4
    Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies

    Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies Autor María J. Recio, Miguel A. Moreno‐Pelayo, Sara Şebnem Kılıç, Alberto C. Guardo, Özden Sanal, Luis M. Allende, Verónica Pérez-Flores, Ángeles Mencía, Silvia Modamio‐Høybjør, Elena Seoane, José R. Regueiro

    Vydáno 2007
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  5. 5
    In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

    In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment Autor Matías Morin, Keith E. Bryan, Fernando Mayo, Richard J. Goodyear, Ángeles Mencía, Silvia Modamio‐Høybjør, Ignacio del Castillo, Jessica M. Cabalka, Guy P. Richardson, Felipe Moreno, Peter A. Rubenstein, Miguel A. Moreno‐Pelayo

    Vydáno 2009
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  6. 6
    Auditory neuropathy in patients carrying mutations in the otoferlin gene (<i>OTOF</i>)

    Auditory neuropathy in patients carrying mutations in the otoferlin gene (<i>OTOF</i>) Autor Montserrat Rodriguez‐Ballesteros, Francisco Castillo, Yolanda Martín, Miguel A. Moreno‐Pelayo, Constantino Morera, Félix Prieto, Jaime Marco, Antonio Ventura, Jaime Gallo‐Terán, Carmelo Morales‐Angulo, Cristina Navas, Germán Trinidad, M. Cruz Tapia, Felipe Moreno, Ignacio del Castillo

    Vydáno 2003
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  7. 7
    An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

    An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice Autor Morag A. Lewis, Elizabeth Quint, Anne M. Glazier, Helmut Fuchs, Martin Hrabě de Angelis, Cordelia Langford, Stijn van Dongen, Cei Abreu‐Goodger, Matias Piipari, Nick Redshaw, Tamás Dalmay, Miguel A. Moreno‐Pelayo, Anton J. Enright, Karen P. Steel

    Vydáno 2009
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  8. 8
    Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

    Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants Autor Matías Morin, Lucía Borreguero, Kevin T. Booth, María Lachgar, P.L.M. Huygen, Manuela Villamar, Fernando Mayo, Luis C. Barrio, Luciana Santos Serrão de Castro, Carmelo Morales‐Angulo, Ignacio del Castillo, B Arellano, Dolores Tellerı́a, Richard J. Smith, Héla Azaiez, Miguel A. Moreno‐Pelayo

    Vydáno 2020
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  9. 9
    A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ–Tγδ+B+NK+ human SCID

    A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ–Tγδ+B+NK+ human SCID Autor Juana Gil, Elena M. Busto, Beatriz Garcillán, Carmen Chean, Maria Cruz García-Rodríguez, Andrea Díaz-Alderete, J. Navarro, Jesús Reiné, Ángeles Mencía, Dolores Gurbindo, Cristina Beléndez, Isabel Gordillo, Marlena Duchniewicz, Kerstin Höhne, F. García‐Sánchez, Eduardo Fernández‐Cruz, Eduardo López‐Granados, Wolfgang W. Schamel, Miguel A. Moreno‐Pelayo, María J. Recio, José R. Regueiro

    Vydáno 2011
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  10. 10
    Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins

    Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins Autor Borja Alonso-Lerma, Ylenia Jabalera, Sara Samperio, Matías Morin, Almudena Fernández, Logan T. Hille, Rachel A. Silverstein, Ane Quesada-Ganuza, Antonio Reifs, Sergio Fernández-Peñalver, Yolanda Benitez, Lucía Soletto, J.A. Gavira, Adrián Díaz, Wim Vranken, Avencia Sánchez-Mejías, Marc Güell, Francisco J. M. Mojica, Benjamin P. Kleinstiver, Miguel A. Moreno‐Pelayo, Lluı́s Montoliu, Raúl Pérez‐Jiménez

    Vydáno 2023
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  11. 11
    A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

    A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy Autor Montserrat Rodriguez‐Ballesteros, Raúl Reynoso, M. A. Gil Olarte, Manuela Villamar, Constantino Morera, Rosamaria Santarelli, Edoardo Arslan, Carme Medá, Carlos Curet, Christiane Völter, Manuel Sainz-Quevedo, Pierangela Castorina, Umberto Ambrosetti, Stefano Berrettini, Klemens Frei, Socorro Tedín, Janine Smith, M. Cruz Tapia, Laura Cavallé, Nancy Gélvez, Paola Primignani, Elena Gómez-Rosas, Mirta Martín, Miguel A. Moreno‐Pelayo, Marta Lucía Tamayo, José Moreno-Barral, Felipe Moreno, Ignacio del Castillo

    Vydáno 2008
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  12. 12
    Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

    Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study Autor Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo, Zippora Brownstein, Sandrine Marlin, Adina Quint, D.J. Cockburn, Arti Pandya, Kirby Siemering, Gregory Chamberlin, Ester Ballana, Wim Wuyts, Andréa Trevas Maciel‐Guerra, Araceli Álvarez, Manuela Villamar, Mordechai Shohat, Dvorah Abeliovich, Hans‐Henrik M. Dahl, Xavier Estivill, Paolo Gasparini, Tim Hutchin, Walter E. Nance, Edi Lúcia Sartorato, Richard J. Smith, Guy Van Camp, Karen B. Avraham, Christine Petit, Felipe Moreno

    Vydáno 2003
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  13. 13
    DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

    DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss Autor Michael S. Hildebrand, Matías Morin, Nicole C. Meyer, Fernando Mayo, Silvia Modamio‐Høybjør, Ángeles Mencía, Leticia Olavarrieta, Carmelo Morales‐Angulo, Carla Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce W. Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, Katherine Lachlan, A. Eliot Shearer, Terry A. Braun, P.L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J. Smith, Miguel A. Moreno‐Pelayo

    Vydáno 2011
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  14. 14
    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

    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 impai... Autor Francisco Castillo, Montserrat Rodriguez‐Ballesteros, Araceli Álvarez, Tim Hutchin, Emanuela Leonardi, Camila Andréa de Oliveira, Héla Azaiez, Zippora Brownstein, Matthew R. Avenarius, Sandrine Marlin, Arti Pandya, Hashem Shahin, Kirby Siemering, Dominique Weil, Wim Wuyts, Luis A. Aguirre, Y. Martin, Miguel A. Moreno‐Pelayo, Manuela Villamar, Karen B. Avraham, H H Dahl, Moien Kanaan, W E Nance, Christine Petit, Richard J. Smith, Guy Van Camp, Edi Lúcia Sartorato, Alessandra Murgia, Felipe Moreno, Ignacio del Castillo

    Vydáno 2005
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  15. 15
    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 Autor Celia Zazo Seco, Luciana Serrão de Castro, Josephine W. van Nierop, Matías Morin, Shalini N. Jhangiani, Eva J. J. Verver, Margit Schraders, Nadine Maiwald, Mieke Wesdorp, Hanka Venselaar, Liesbeth Spruijt, Jaap Oostrik, Jeroen Schoots, Jeroen van Reeuwijk, Stefan H. Lelieveld, P.L.M. Huygen, María Insenser, R.J.C. Admiraal, Ronald J. E. Pennings, Lies H. Hoefsloot, Alejandro Arias Vásquez, Joep de Ligt, Helger G. Yntema, Joop H. Jansen, Donna M. Muzny, Gerwin Huls, Michelle M. van Rossum, James R. Lupski, Miguel A. Moreno‐Pelayo, Henricus P. M. Kunst, Hannie Kremer

    Vydáno 2015
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  16. 16
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Autor Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    Vydáno 2019
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  17. 17
    CSVS, a crowdsourcing database of the Spanish population genetic variability

    CSVS, a crowdsourcing database of the Spanish population genetic variability Autor María Peña-Chilet, Gema Roldán, Javier Pérez-Florido, Francisco Ortuño, Rosario Carmona, Virginia Aquino, Daniel López-López, Carlos Loucera, Jose L. Fernández-Rueda, Asunción Gallego, Francisco García‐García, Anna González‐Neira, Guillermo Pita, Rocío Núñez‐Torres, Javier Santoyo‐López, Carmen Ayuso, Pablo Mínguez, Almudena Ávila‐Fernández, Marta Cortón, Miguel A. Moreno‐Pelayo, Matías Morin, Álvaro Gallego-Martinez, José A. López‐Escámez, Salud Borrego, Guillermo Antiñolo, Jorge Amigo, Josefa Salgado, Sara Pasalodos-Sánchez, Beatriz Morte, Fátima Al‐Shahrour, Rafael Artuch, Javier Benı́tez, Luís Castaño, Ignacio del Castillo, Aitor Delmiro, Carmen Espinós, R Estrada González, Daniel Grinberg, Encarna Guillén‐Navarro, Pablo Lapunzina, Esther López, Ramón Martí, Montserrat Milá, José M. Millán, Virginia Nunes, Francesc Palau, Belén Pérez, Luis Pérez Jurado, Rosario Perona, Aurora Pujol, Feliciano J. Ramos, Antònia Ribes, Jordi Rosell, Eulalia Rovira, Jordi Surrallés, Isabel Tejada, Magdalena Ugarte, Ángel Carracedo, Ángel Alonso, Joaquı́n Dopazo

    Vydáno 2020
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  18. 18
    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Autor Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen B. Avraham, Neha Bhatia, Donglin Bai, Nicole J. Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, Jasmine Goh, John H. Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey T. Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un‐Kyung Kim, Hannie Kremer, Ian D. Krantz, Suzanne M. Leal, Morag A. Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Ming, Miguel A. Moreno‐Pelayo, Matías Morin, Cynthia C. Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J. Smith, Lynette Pei‐Chi Shek, Funda Suer, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang

    Vydáno 2019
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