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Genética y patofisiología neurosensorial

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Sólo se han incluido artículos originales, editoriales y revisiones.

  • Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I.

    Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

    Journal of Translational Medicine . 17(1): 290-290. Nº de citas: 6

    [doi:10.1186/s12967-019-2041-x]

  • Al Yassin A, D'Arco F, Morín M, Pagarkar W, Harrop-Griffiths K, Shaida A, Fernández E, Cullup T, De-Souza B, Moreno-Pelayo MA, Bitner-Glindzicz M.

    Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

    GENES . 10(7): . Nº de citas: 2

    [doi:10.3390/genes10070529]

  • Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M.

    Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

    Frontiers in Genetics . 9: 479-479. Nº de citas: 12

    [doi:10.3389/fgene.2018.00479]

  • Rosa-Rosa JM, Caniego-Casas T, Leskela S, Muñoz G, Del Castillo F, Garrido P, Palacios J.

    Modified SureSelect QXT Target Enrichment Protocol for Illumina Multiplexed Sequencing of FFPE Samples.

    BIOLOGICAL PROCEDURES ONLINE . 20: 19-19. Nº de citas: 3

    [doi:10.1186/s12575-018-0084-7]

  • Piris Villaespesa, M., Munoz Martin, G., Saez Martin, A. J., Nunez-Torron Stock, C., Moncada, J. L., Del Rey Sanchez, J. M., Fernandez Felix, B., Sanchez Perez, R., Del Castillo Ferndandez del Pino, F. J., Zamora, J., Martinez Lopez, J., Lopez Jimenez, J., Villarrubia Espinosa, J., Garcia Gutierrez, V.

    STUDY OF PREVALENCE OF JAK2V617F MUTATION IN PATIENTS WITH POTENTIAL POLYTETHEMIA VERA (PV)

    Haematologica . 103: 69-70.

  • Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.

    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

    AMERICAN JOURNAL OF HUMAN GENETICS . 103(1): 74-88. Nº de citas: 21

    [doi:10.1016/j.ajhg.2018.05.011]

  • del Castillo, Francisco J., Munoz, Gloria, Garcia-Seisdedos, David, Sanchez-Herranz, Antonio, Morado, Marta, Valles, Ana, Piris, Miguel, Martin-Moro, Fernando, Sanz-Ruperez, Alejandro, Lopez-Jimenez, Javier, Villarrubia, Jesus.

    Fast genetic diagnosis of lysosomal disorders by means of a novel NGS-based resequencing gene panel

    MOLECULAR GENETICS AND METABOLISM . 123(2): 38-38.

    [doi:10.1016/j.ymgme.2017.12.079]

  • Del Castillo FJ, Del Castillo I.

    DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

    FRONTIERS IN MOLECULAR NEUROSCIENCE . 10: 428-428. Nº de citas: 38

    [doi:10.3389/fnmol.2017.00428]

  • Marin AV, Jiménez-Reinoso A, Briones AC, Muñoz-Ruiz M, Aydogmus C, Pasick LJ, Couso J, Mazariegos MS, Alvarez-Prado AF, Blázquez-Moreno A, Cipe FE, Haskologlu S, Dogu F, Morín M, Moreno-Pelayo MA, García-Sánchez F, Gil-Herrera J, Fernández-Malavé E, Reyburn HT, Ramiro AR, Ikinciogullari A, Recio MJ, Regueiro JR, Garcillán B.

    Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY . 139(1): . Nº de citas: 9

    [doi:10.1016/j.jaci.2016.06.020]

  • Vogl C, Panou I, Yamanbaeva G, Wichmann C, Mangosing SJ, Vilardi F, Indzhykulian AA, Pangršic T, Santarelli R, Rodriguez-Ballesteros M, Weber T, Jung S, Cardenas E, Wu X, Wojcik SM, Kwan KY, Del Castillo I, Schwappach B, Strenzke N, Corey DP, Lin SY, Moser T.

    Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.

    EMBO JOURNAL . 35(23): 2536-2552. Nº de citas: 33

    [doi:10.15252/embj.201593565]

  • Santarelli R, Del Castillo I, Cama E, Scimemi P, Starr A.

    Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

    HEARING RESEARCH . 330(B, SI): 200-212. Nº de citas: 31

    [doi:10.1016/j.heares.2015.07.007]

  • Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

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

    AMERICAN JOURNAL OF HUMAN GENETICS . 97(5): 647-660. Nº de citas: 37

    [doi:10.1016/j.ajhg.2015.09.011]

  • Hernández-Imaz E, Martín Y, de Conti L, Melean G, Valero A, Baralle M, Hernández-Chico C.

    Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

    Plos One . 10(10): . Nº de citas: 5

    [doi:10.1371/journal.pone.0141735]

  • Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I.

    Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

    PEDIATRIC RESEARCH . 78(1): 97-102. Nº de citas: 10

    [doi:10.1038/pr.2015.56]

  • Seco, Celia Zazo, Oonk, Anne M. M., Dominguez-Ruiz, Maria, Draaisma, Jos M. T., Gandia, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus P. M., Hoefsloot, Lies H., del Castillo, Ignacio, Pennings, Ronald J. E., Kremer, Hannie, Admiraal, Ronald J. C., Schraders, Margit.

    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

    EUROPEAN JOURNAL OF HUMAN GENETICS . 23(2): 189-194. Nº de citas: 32

    [doi:10.1038/ejhg.2014.83]

  • Sánchez-Alcudia R, Cortón M, Ávila-Fernández A, Zurita O, Tatu SD, Pérez-Carro R, Fernandez-San Jose P, Lopez-Martinez MÁ, del Castillo FJ, Millan JM, Blanco-Kelly F, García-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C.

    Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity in a Large Cohort of Spanish Retinal Dystrophies Families

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 55(11): 7562-7571. Nº de citas: 10

    [doi:10.1167/iovs.14-14938]

  • Legan PK, Goodyear RJ, Morín M, Mencia A, Pollard H, Olavarrieta L, Korchagina J, Modamio-Hoybjor S, Mayo F, Moreno F, Moreno-Pelayo MA, Richardson GP.

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

    HUMAN MOLECULAR GENETICS . 23(10): 2551-2568. Nº de citas: 33

    [doi:10.1093/hmg/ddt646]

  • Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ.

    Similar Phenotypes Caused by Mutations in OTOG and OTOGL

    EAR AND HEARING . 35(3): 84-91. Nº de citas: 14

    [doi:10.1097/AUD.0000000000000008]