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Genética y patofisiología neurosensorial

Buscador de publicaciones

Sólo se han incluido artículos originales, editoriales y revisiones.

  • 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]

  • Gandía M, Del Castillo FJ, Rodríguez-Álvarez FJ, Garrido G, Villamar M, Calderón M, Moreno-Pelayo MA, Moreno F, del Castillo I.

    A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

    Plos One . 8(9): . Nº de citas: 14

    [doi:10.1371/journal.pone.0073566]

  • Ramsebner R, Ludwig M, Lucas T, de Jong D, Hamader G, del Castillo I, Parzefall T, Baumgartner WD, Schoefer C, Szuhai K, Frei K.

    Identification of a SNP in a Regulatory Region of GJB2 Associated With Idiopathic Nonsyndromic Autosomal Recessive Hearing Loss in a Multicenter Study

    OTOLOGY & NEUROTOLOGY . 34(4): 650-656. Nº de citas: 3

    [doi:10.1097/MAO.0b013e31828d6501]

  • Hernández-Imaz E, Campos B, Rodríguez-Álvarez FJ, Abad O, Melean G, Gardenyes J, Martín Y, Hernández-Chico C.

    Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1

    CLINICAL GENETICS . 83(5): 462-466. Nº de citas: 3

    [doi:10.1111/j.1399-0004.2012.01952.x]

  • Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Seco CZ, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.

    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

    AMERICAN JOURNAL OF HUMAN GENETICS . 91(5): 883-889. Nº de citas: 57

    [doi:10.1016/j.ajhg.2012.09.012]

  • Morín M, Asturias JA, Domínguez A.

    Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

    FEMS MICROBIOLOGY LETTERS . 333(2): 121-128. Nº de citas: 4

    [doi:10.1111/j.1574-6968.2012.02606.x]

  • Melean G, Velasco A, Hernández-Imaz E, Rodríguez-Álvarez FJ, Martín Y, Valero A, Hernández-Chico C.

    RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

    Neurogenetics . 13(3): 267-274. Nº de citas: 10

    [doi:10.1007/s10048-012-0335-8]

  • del Castillo, Francisco J., del Castillo, Ignacio.

    Genetics of isolated auditory neuropathies

    FRONTIERS IN BIOSCIENCE-LANDMARK . 17: 1251-1265. Nº de citas: 20

    [doi:10.2741/3984]

  • Heidenreich M, Lechner SG, Vardanyan V, Wetzel C, Cremers CW, De Leenheer EM, Aránguez G, Moreno-Pelayo MÁ, Jentsch TJ, Lewin GR.

    KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.

    NATURE NEUROSCIENCE . 15(1): 138-145. Nº de citas: 73

    [doi:10.1038/nn.2985]

  • Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S.

    DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 54(6): 565-569. Nº de citas: 8

    [doi:10.1016/j.ejmg.2011.07.003]

  • Ben Saïd M, Ayedi L, Mnejja M, Hakim B, Khalfallah A, Charfeddine I, Khifagi C, Turki K, Ayadi H, Benzina Z, Ghorbel A, Castillo ID, Masmoudi S, Aifa MH.

    A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 54(6): 535-541. Nº de citas: 19

    [doi:10.1016/j.ejmg.2011.06.008]

  • Gil J, Busto EM, Garcillán B, Chean C, García-Rodríguez MC, Díaz-Alderete A, Navarro J, Reiné J, Mencía A, Gurbindo D, Beléndez C, Gordillo I, Duchniewicz M, Höhne K, García-Sánchez F, Fernández-Cruz E, López-Granados E, Schamel WW, Moreno-Pelayo MA, Recio MJ, Regueiro JR.

    A leaky mutation in CD3D differentially affects aß and ?d T cells and leads to a Taß-T?d+B+NK+ human SCID.

    JOURNAL OF CLINICAL INVESTIGATION . 121(10): 3872-3876. Nº de citas: 34

    [doi:10.1172/JCI44254]