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Genetics and sensorineural pathophysiology

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  • 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): . Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 34

    [doi:10.1172/JCI44254]

  • Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

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

    HUMAN MUTATION . 32(7): 825-834. Number of citations: 60

    [doi:10.1002/humu.21512]

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

    The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

    FRONTIERS IN BIOSCIENCE-LANDMARK . 16: 3252-3274. Number of citations: 37

    [doi:10.2741/3910]

  • Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I.

    Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

    AMERICAN JOURNAL OF HUMAN GENETICS . 88(5): 621-627. Number of citations: 56

    [doi:10.1016/j.ajhg.2011.04.007]

  • Valero MC, Martín Y, Hernández-Imaz E, Marina Hernández A, Meleán G, Valero AM, Javier Rodríguez-Álvarez F, Tellería D, Hernández-Chico C.

    A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

    JOURNAL OF MOLECULAR DIAGNOSTICS . 13(2): 113-122. Number of citations: 64

    [doi:10.1016/j.jmoldx.2010.09.002]

  • Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.

    A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

    CLINICAL GENETICS . 78(3): 267-274. Number of citations: 57

    [doi:10.1111/j.1399-0004.2010.01387.x]

  • Melean G, Hernández AM, Valero MC, Hernández-Imaz E, Martín Y, Hernández-Chico C.

    Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

    Bmc Cancer . 10: 407-407. Number of citations: 3

    [doi:10.1186/1471-2407-10-407]

  • Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB.

    Hypothesizing an Ancient Greek Origin of the GJB2 35delG Mutation: Can Science Meet History?

    GENETIC TESTING AND MOLECULAR BIOMARKERS . 14(2): 183-187. Number of citations: 10

    [doi:10.1089/gtmb.2009.0146]