Works by Fernández, Almudena

Results: 148
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    Increasing the complexity: new genes and new types of albinism.

    Published in:
    Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 11, doi. 10.1111/pcmr.12167
    By:
    • Montoliu, Lluís;
    • Grønskov, Karen;
    • Wei, Ai ‐ Hua;
    • Martínez ‐ García, Mónica;
    • Fernández, Almudena;
    • Arveiler, Benoît;
    • Morice ‐ Picard, Fanny;
    • Riazuddin, Saima;
    • Suzuki, Tamio;
    • Ahmed, Zubair M.;
    • Rosenberg, Thomas;
    • Li, Wei
    Publication type:
    Article
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    Posterior cortical atrophy in clinical practice.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074568
    By:
    • Maure‐Blesa, Lucía;
    • Agüero, Pablo;
    • Sainz, María José;
    • Téllez, Raquel;
    • Lorda‐Sánchez, Isabel;
    • Ávila‐Fernández, Almudena;
    • Gallego‐Merlo, Jesús;
    • Pérez‐Pérez, Julián;
    • Gómez‐Tortosa, Estrella
    Publication type:
    Article
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    A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.

    Published in:
    BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10289-z
    By:
    • Domínguez-Ruiz, María;
    • Murillo-Cuesta, Silvia;
    • Contreras, Julio;
    • Cantero, Marta;
    • Garrido, Gema;
    • Martín-Bernardo, Belén;
    • Gómez-Rosas, Elena;
    • Fernández, Almudena;
    • del Castillo, Francisco J.;
    • Montoliu, Lluís;
    • Varela-Nieto, Isabel;
    • del Castillo, Ignacio
    Publication type:
    Article
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    Summary-data based Mendelian randomization identifies gene expression regulatory polymorphisms associated with bovine paratuberculosis by modulation of the nuclear factor Kappa β (NF-κß)-mediated inflammatory response.

    Published in:
    BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09710-w
    By:
    • Badia-Bringué, Gerard;
    • Canive, Maria;
    • Fernandez-Jimenez, Nora;
    • Lavín, José Luis;
    • Casais, Rosa;
    • Blanco-Vázquez, Cristina;
    • Vázquez, Patricia;
    • Fernández, Almudena;
    • Bilbao, Jose Ramón;
    • Garrido, Joseba M.;
    • Juste, Ramón A.;
    • González-Recio, Oscar;
    • Alonso-Hearn, Marta
    Publication type:
    Article
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    Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

    Published in:
    Molecular Vision, 2020, v. 26, p. 216
    By:
    • García-García, Gema;
    • Sanchez-Navarro, Iker;
    • Aller, Elena;
    • Jaijo, Teresa;
    • Fuster-Garcia, Carla;
    • Rodríguez-Munoz, Ana;
    • Vallejo, Elena;
    • José Tellería, Juan;
    • Vázquez, Selma;
    • Beltrán, Sergi;
    • Derdak, Sophia;
    • Zurita, Olga;
    • Villaverde-Montero, Cristina;
    • Avila-Fernández, Almudena;
    • Corton, Marta;
    • Blanco-Kelly, Fiona;
    • Hakonarson, Hakon;
    • Millán, José M.;
    • Ayuso, Carmen
    Publication type:
    Article
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    New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.

    Published in:
    JAMA Ophthalmology, 2015, v. 133, n. 2, p. 133, doi. 10.1001/jamaophthalmol.2014.4266
    By:
    • Riveiro-Álvarez, Rosa;
    • Yajing (Angela) Xie;
    • López-Martínez, Miguel-Ángel;
    • Gambin, Tomasz;
    • Pérez-Carro, Raquel;
    • Ávila-Fernández, Almudena;
    • López-Molina, María-Isabel;
    • Zernant, Jana;
    • Jhangiani, Shalini;
    • Muzny, Donna;
    • Bo Yuan;
    • Boerwinkle, Eric;
    • Gibbs, Richard;
    • Lupski, James R.;
    • Ayuso, Carmen;
    • Allikmets, Rando
    Publication type:
    Article
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    Efficacy and Safety of Dimethyl Fumarate in Patients with Moderate-to-Severe Plaque Psoriasis: Results from a 52-Week Open-Label Phase IV Clinical Trial (DIMESKIN 1).

    Published in:
    Dermatology & Therapy, 2023, v. 13, n. 1, p. 329, doi. 10.1007/s13555-022-00863-2
    By:
    • Daudén, Esteban;
    • de la Cueva, Pablo;
    • Salgado-Boquete, Laura;
    • Llamas-Velasco, Mar;
    • Fonseca, Eduardo;
    • Pau-Charles, Ignasi;
    • Asensio, David;
    • Guilà, Meritxell;
    • Carrascosa, José Manuel;
    • DIMESKIN 1 Study investigators;
    • Linares, Mario;
    • Vélez, Antonio;
    • Yébenes, Mireia;
    • Mollet, Jordi;
    • Gardeazabal, Jesús;
    • Flórez, Ángeles;
    • Suárez, José;
    • Armesto, Susana;
    • Fernández, Almudena;
    • Ruiz, José Carlos
    Publication type:
    Article
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    Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

    Published in:
    Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
    By:
    • Galbis‐Martínez, Lilián;
    • Blanco‐Kelly, Fiona;
    • García‐García, Gema;
    • Ávila‐Fernández, Almudena;
    • Jaijo, Teresa;
    • Fuster‐García, Carla;
    • Perea‐Romero, Irene;
    • Zurita‐Muñoz, Olga;
    • Jimenez‐Rolando, Belén;
    • Carreño, Ester;
    • García‐Sandoval, Blanca;
    • Millán, José M.;
    • Ayuso, Carmen
    Publication type:
    Article
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    Community Activities in Primary Care: A Literature Review.

    Published in:
    Journal of Primary Care & Community Health, 2024, p. 1, doi. 10.1177/21501319231223362
    By:
    • Mosteiro Miguéns, Diego Gabriel;
    • Rodríguez Fernández, Almudena;
    • Zapata Cachafeiro, Maruxa;
    • Vieito Pérez, Natalia;
    • Represas Carrera, Francisco Jesús;
    • Novío Mallón, Silvia
    Publication type:
    Article
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    DISTROFIAS HEREDITARIAS DE RETINA EN ESPAÑA: TRES DÉCADAS DE ESTUDIO EPIDEMIOLÓGICO, CLÍNICO Y GENÉTICO.

    Published in:
    Anales de la Real Academia Nacional de Medicina, 2022, v. 139, n. 3, p. 274, doi. 10.32440/ar.2022.139.03.rev08
    By:
    • Perea-Romero, Irene;
    • Fernández-Caballero, Lidia;
    • Iancu, Ionut F.;
    • Rodilla, Cristina;
    • Martín-Mérida, Inmaculada;
    • Ávila-Fernández, Almudena;
    • Almoguera, Berta;
    • Riveiro-Álvarez, Rosa;
    • Trujillo-Tiebas, María J.;
    • Lorda-Sánchez, Isabel;
    • Tahsin-Swafiri, Saoud;
    • López-Grondona, Fermina;
    • Isabel Sánchez, Ana;
    • Blanco-Kelly, Fiona;
    • del Pozo-Valero, Marta;
    • Mínguez, Pablo;
    • Millán, J. M.;
    • Martín-Gutiérrez, Pilar;
    • Jiménez-Rolando, Belén;
    • Carreño, Ester
    Publication type:
    Article
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    Genome-Wide Association Study Reveals Quantitative Trait Loci and Candidate Genes Associated with High Interferon-gamma Production in Holstein Cattle Naturally Infected with Mycobacterium Bovis.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6165, doi. 10.3390/ijms25116165
    By:
    • Badia-Bringué, Gerard;
    • Canive, María;
    • Vázquez, Patricia;
    • Garrido, Joseba M.;
    • Fernández, Almudena;
    • Juste, Ramón A.;
    • Jiménez, José Antonio;
    • González-Recio, Oscar;
    • Alonso-Hearn, Marta
    Publication type:
    Article