Genetics and sensorineural pathophysiology
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Only original articles, editorials, guidelines.
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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. Number of citations: 10
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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. Number of citations: 32
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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. Number of citations: 10
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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. Number of citations: 33
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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. Number of citations: 14
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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