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Full TextIssue DateTitleAuthor(s)
2011A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44Schrauwen, I.; Weegerink, N.J.D.; Fransen, E.; Claes, C.; Pennings, R.J.E.; Cremers, C.W.R.J.; Huygen, P.L.M.; Kunst, H.P.M.; Camp, G. van
2011Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.Weegerink, N.J.D.; Huygen, P.L.M.; Schraders, M.; Kremer, H.; Pennings, R.J.; Kunst, H.P.
2011Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.Weegerink, N.J.D.; Schraders, M.; Leijendeckers, J.M.; Slieker, K.; Huygen, P.L.M.; Hoefsloot, L.H.; Oostrik, J.; Pennings, R.J.; Simon, A.
2011Optokinetic response in patients with vestibular areflexiaHuygen, P.L.M.; Verhagen, W.I.
2011Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutationPauw, R.J.; Huygen, P.L.M.; Colditz, G.M.; Cremers, C.W.R.J.
2011Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1Heer, A.M. de; Collin, R.W.J.; Huygen, P.L.M.; Schraders, M.; Oostrik, J.; Rouwette, M.; Kunst, H.P.M.; Kremer, J.M.J.; Cremers, C.W.R.J.
2011Phenotypes of two Dutch DFNA3 families with mutations in GJB2Weegerink, N.J.D.; Pennings, R.J.E.; Huygen, P.L.M.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Kunst, H.P.M.
2011Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) familyHeer, A.M. de; Schraders, M.; Oostrik, J.; Hoefsloot, L.H.; Huygen, P.L.M.; Cremers, C.W.R.J.
2011Phenotype of the first otosclerosis family linked to OTSC10Weegerink, N.J.D.; Schrauwen, I.; Huygen, P.L.M.; Pennings, R.J.E.; Cremers, C.W.R.J.; Camp, G. van; Kunst, H.P.M.
2011DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing lossHildebrand, M.S.; Morin, M.; Meyer, N.C.; Mayo, F.; Modamio-Hoybjor, S.; Mencia, A.; Olavarrieta, L.; Morales-Angulo, C.; Nishimura, C.J.; Workman, H.; DeLuca, A.P.; Castillo, I. del; Taylor, K.R.; Tompkins, B.; Goodman, C.W.; Schrauwen, I.; Wesemael, M.V.; Lachlan, K.; Shearer, A.E.; Braun, T.A.; Huygen, P.L.M.; Kremer, J.M.J.; Camp, G. van; Moreno, F.; Casavant, T.L.; Smith, R.J.; Moreno-Pelayo, M.A.
2011Ear and hearing problems in relation to karyotype in children with Turner syndromeVerver, E.J.; Freriks, K.; Thomeer, H.G.X.M.; Huygen, P.L.M.; Pennings, R.J.E.; Alfen-van der Velden, A.A.E.M. van; Timmers, H.J.L.M.; Otten, B.J.; Cremers, C.W.R.J.; Kunst, H.P.M.
2011Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairmentSchraders, M.; Haas, S.A.; Weegerink, N.J.D.; Oostrik, J.; Hu, H.; Hoefsloot, L.H.; Kannan, S.; Huygen, P.L.M.; Pennings, R.J.E.; Admiraal, R.J.C.; Kalscheuer, V.M.M.; Kunst, H.P.M.; Kremer, J.M.J.
2011Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 MutationsWeegerink, N.J.D.; Schraders, M.; Oostrik, J.; Huygen, P.L.M.; Strom, T.M.; Granneman, S.; Pennings, R.J.E.; Venselaar, H.; Hoefsloot, L.H.; Elting, M.; Cremers, C.W.R.J.; Admiraal, R.J.C.; Kremer, J.M.J.; Kunst, H.P.M.
2010Usefulness of additional measurements of the median nerve with ultrasonography.Claes, F.; Meulstee, J.; Claessen-Oude Luttikhuis, T.T.; Huygen, P.L.M.; Verhagen, W.I.
2010Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.Schraders, M.; Oostrik, J.; Huygen, P.L.M.; Strom, T.M.; Wijk, E. van; Kunst, H.P.M.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Admiraal, R.J.C.; Kremer, J.M.J.
2010Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.Hildebrand, M.S.; Kahrizi, K.; Bromhead, C.J.; Shearer, A.E.; Webster, J.A.; Khodaei, H.; Abtahi, R.; Bazazzadegan, N.; Babanejad, M.; Nikzat, N.; Kimberling, W.J.; Stephan, D.; Huygen, P.L.M.; Bahlo, M.; Smith, R.J.; Najmabadi, H.
2010A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.Hildebrand, M.S.; Gandolfo, L.; Shearer, A.E.; Webster, J.A.; Jensen, M.; Kimberling, W.J.; Stephan, D.; Huygen, P.L.M.; Smith, R.J.; Bahlo, M.
2010Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.Schraders, M.; Lee, K.; Oostrik, J.; Huygen, P.L.M.; Ali, G.; Hoefsloot, L.H.; Veltman, J.A.; Cremers, F.P.M.; Basit, S.; Ansar, M.; Cremers, C.W.R.J.; Kunst, H.P.M.; Ahmad, W.; Admiraal, R.J.C.; Leal, S.M.; Kremer, J.M.J.
2009A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.Hildebrand, M.S.; DeLuca, A.; Taylor, K.R.; Hoskinson, D.P.; Hur, I.A.; Tack, D.; McMordie, S.J.; Huygen, P.L.M.; Casavant, T.L.; Smith, R.J.
2009Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.Drunen, F.J. van; Pauw, R.J.; Collin, R.W.J.; Kremer, H.; Huygen, P.L.M.; Cremers, C.W.R.J.
2009Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.Heer, A.R de; Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Kremer, J.M.J.; Cremers, C.W.R.J.
2009Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.Heer, A.M. de; Huygen, P.L.M.; Collin, R.W.J.; Kremer, H.; Cremers, C.W.R.J.
2009Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.Heer, A.M. de; Huygen, P.L.M.; Collin, R.W.J.; Oostrik, J.; Kremer, J.M.J.; Cremers, C.W.R.J.
2008Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA. Some Evidence for Protection of the Inner Ear.Heer, A.R de; Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Kremer, H.; Cremers, C.W.R.J.
2008A European multicenter study into age-related hearing impairment : Occupational noise, smoking and high BMI are risk factors and moderate akcohol consumption is protectiveFransen, E.; Hendrickx, J.J.; Topsakal, V.; Laer, L. van; Eyken, E. van; Hannula, S.; Maki Torkko, E.; Jensen, M.; Demeester, K.; Bauer, M.; Bonaconso, A.; Mazzoli, M.; Esposo Angeles, A.; Verbruggen, K.; Huyghe, J.; Huygen, P.L.M.; Kunst, S.J.W.; Manninen, M.; Diaz Lacava, A.; Steffens, M.; Wienker, T.F.; Pyykko, I.; Cremers, C.W.R.J.; Kremer, H.; Dhooge, I.J.; Stephens, D.; Orzan, E.; Pfister, M.; Bille, M.; Parving, A.; Sorri, M.; Heyning, P. van de; Camp, G. van
2008Nijmegen results with application of a bone-anchored hearing aid in children: simplified surgical technique.Wolf, M.J.F. de; Hol, M.K.S.; Huygen, P.L.M.; Mylanus, E.A.M.; Cremers, C.W.R.J.
2008Hearing impairment in genotyped Wolfram syndrome patients.Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.
2008Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study.Fransen, E.; Topsakal, V.; Hendrickx, J.J.; Laer, L. van; Huyghe, J.R.; Eyken, E. van; Lemkens, N.; Hannula, S.; Maki-Torkko, E.; Jensen, M.; Demeester, K.; Tropitzsch, A.; Bonaconsa, A.; Mazzoli, M.; Espeso, A.; Verbruggen, K.; Huyghe, J.; Huygen, P.L.M.; Kunst, S.; Manninen, M.; Diaz-Lacava, A.; Steffens, M.; Wienker, T.F.; Pyykko, I.; Cremers, C.W.R.J.; Kremer, H.; Dhooge, I.; Stephens, D.; Orzan, E.; Pfister, M.; Bille, M.; Parving, A.; Sorri, M.; Heyning, P. van de; Camp, G. van
2008Clinical outcome of the simplified surgical technique for BAHA implantation.Wolf, M.J.F. de; Hol, M.K.S.; Huygen, P.L.M.; Mylanus, E.A.M.; Cremers, C.W.R.J.
2007Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.Pauw, R.J.; Collin, R.W.J.; Huygen, P.L.M.; Hoefsloot, L.H.; Kremer, H.; Cremers, C.W.R.J.
2007Phenotype description of a novel DFNA9/COCH mutation, I109T.Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Cruysberg, J.R.M.; Hoefsloot, L.H.; Kremer, H.; Cremers, C.W.R.J.
2007Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7.Pauw, R.J.; Huygen, P.L.M.; Thys, M.; Camp, G. van; Joosten, F.B.M.; Cremers, C.W.R.J.
2007Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.Eyken, E. van; Camp, G. van; Fransen, E.; Topsakal, V.; Hendrickx, J.J.; Demeester, K.; Heyning, P. van de; Maki-Torkko, E.; Hannula, S.; Sorri, M.; Jensen, M.; Parving, A.; Bille, M.; Baur, M.; Pfister, M.; Bonaconsa, A.; Mazzoli, M.; Orzan, E.; Espeso, A.; Stephens, D.; Verbruggen, K.; Huyghe, J.; Dhooge, I.J.; Huygen, P.L.M.; Kremer, H.; Cremers, C.W.R.J.; Kunst, S.J.W.; Manninen, M.; Pyykko, I.; Lacava, A.; Steffens, M.; Wienker, T.F.; Laer, L. van
2007Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.Bischoff, A.M.L.C.; Pauw, R.J.; Huygen, P.L.M.; Aandekerk, A.L.; Kremer, H.; Cremers, C.W.R.J.; Cruysberg, J.R.M.
2007The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss.Eyken, E. van; Laer, L. van; Fransen, E.; Topsakal, V.; Hendrickx, J.J.; Demeester, K.; Heyning, P. van de; Maki-Torkko, E.; Hannula, S.; Sorri, M.; Jensen, M.; Parving, A.; Bille, M.; Baur, M.; Pfister, M.; Bonaconsa, A.; Mazzoli, M.; Orzan, E.; Espeso, A.; Stephens, D.; Verbruggen, K.; Huyghe, J.; Dhooge, I.J.; Huygen, P.L.M.; Kremer, H.; Cremers, C.W.R.J.; Kunst, S.J.W.; Manninen, M.; Pyykko, I.; Rajkowska, E.; Pawelczyk, M.; Sliwinska-Kowalska, M.; Steffens, M.; Wienker, T.F.; Camp, G. van
2007Familial aggregation of tinnitus: a European multicentre study.Hendrickx, J.J.; Demeester, K.; Topsakal, V.; Eyken, E. van; Fransen, E.; Maki-Torkko, E.; Hannula, S.; Jensen, M.; Tropitzsch, A.; Bonaconsa, A.; Mazzoli, M.; Espeso, A.; Verbruggen, K.; Huyghe, J.; Huygen, P.L.M.; Kremer, H.; Kunst, S.J.W.; Manninen, M.; Diaz-Lacava, A.N.; Steffens, M.; Parving, A.; Pyykko, I.; Dhooge, I.J.; Stephens, D.; Orzan, E.; Pfister, M.H.; Bille, M.; Sorri, M.; Cremers, C.W.R.J.; Laer, L. van; Camp, G. van; Wienker, T.F.; Heyning, P. van de
2007Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) familyPlantinga, R.F.; Cremers, C.W.R.J.; Huygen, P.L.M.; Kunst, H.P.M.; Bosman, A.J.
2006Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).Collin, R.W.J.; Pauw, R.J.; Schoots, J.; Huygen, P.L.M.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Kremer, H.
2006Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.Santos, R.L.; Hafner, F.M.; Huygen, P.L.M.; Linder, T.E.; Schinzel, A.; Spillmann, T.; Leal, S.M.
2006Cochleovestibular and ocular features in a Dutch DFNA11 family.Bischoff, A.M.L.C.; Pennings, R.J.E.; Huygen, P.L.M.; Luijendijk, M.W.J.; Wijk, E. van; Cruysberg, J.R.M.; Kremer, H.; Cremers, C.W.R.J.
2006A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlationPlantinga, R.F.; Brouwer, A.P.M. de; Huygen, P.L.M.; Kunst, H.P.M.; Kremer, H.; Cremers, C.W.R.J.
2006The phenotype of the first otosclerosis family linked to OTSC5.Pauw, R.J.; Leenheer, E. de; Bogaert, K. van den; Huygen, P.L.M.; Camp, G. van; Joosten, F.B.M.; Cremers, C.W.R.J.
2006Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD).Hendrickx, J.J.; Mudde, A.H.; Hart, L.M. 't; Huygen, P.L.M.; Cremers, C.W.R.J.
2006Visual impairment in Finnish Usher syndrome type III.Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Sankila, E.M.; Tuppurainen, K.; Kleemola, L.; Cremers, C.W.R.J.; Deutman, A.F.
2006Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.Robertson, N.G.; Cremers, C.W.R.J.; Huygen, P.L.M.; Ikezono, T.; Krastins, B.; Kremer, H.; Kuo, S.F.; Liberman, M.C.; Merchant, S.N.; Miller, C.E.; Nadol, J.; Sarracino, D.A.; Verhagen, W.I.M.; Morton, C.
2005Van gen naar ziekte; een op middelbare leeftijd optredende progressieve cochleavestibulaire disfunctie (DFNA9)Cremers, C.W.R.J.; Kemperman, M.H.; Bom, S.J.H.; Huygen, P.L.M.; Verhagen, W.I.M.; Kremer, J.M.J.
2005Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).Topsakal, V.; Pennings, R.J.E.; Brinke, H. te; Hamel, B.C.J.; Huygen, P.L.M.; Kremer, J.M.J.; Cremers, C.W.R.J.
2005Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.Bischoff, A.M.L.C.; Huygen, P.L.M.; Kemperman, M.H.; Pennings, R.J.E.; Bom, S.J.H.; Verhagen, W.I.M.; Admiraal, R.J.C.; Kremer, J.M.J.; Cremers, C.W.R.J.
2005Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients.Plantinga, R.F.; Kleemola, L.; Huygen, P.L.M.; Joensuu, T.; Sankila, E.M.; Pennings, R.J.E.; Cremers, C.W.R.J.
2005Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations.Verhagen, W.I.M.; Huygen, P.L.M.; Gabreƫls-Festen, A.A.W.M.; Engelhart, M.J.; Mierlo, P.J. van; Engelen, B.G.M. van

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