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Genetics and sensorineural pathophysiology

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  • 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]

  • Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M.

    Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

    Archivos de la Sociedad Espanola de Oftalmologia . : .

    [doi:10.1016/j.oftal.2021.02.002]

  • Pampín Martínez MM, Rodríguez-Laguna L, Gómez García E, Cebrián Carretero JL, González Otero T, López Gutiérrez JC.

    Genetic profile of arteriovenous anomalies of the head and neck: Implications in progression and therapeutic approaches.

    JOURNAL OF PEDIATRIC SURGERY . : .

    [doi:10.1016/j.jpedsurg.2023.01.047]

  • Pérez-Úbeda MJ, Arribas P, Gimeno García-Andrade MD, Garvín L, Rodríguez A, Ponz V, Ballester S, Fernández S, Fuentes-Ferrer M, Ascaso A, Portolés A, Marco F.

    " Adjuvant arthroscopy does not improve the functional outcome of volar locking plate for distal radius fractures. A randomized clinical trial.".

    Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association . : .

    [doi:10.1016/j.arthro.2023.06.036]

  • Santarelli R, Scimemi P, Cama E, Domínguez-Ruiz M, Bonora C, Gallo C, Rodríguez-Ballesteros M, Del Castillo I.

    Preservation of Distortion Product Otoacoustic Emissions in OTOF-Related Hearing Impairment.

    EAR AND HEARING . : .

    [doi:10.1097/AUD.0000000000001421]