|
|
DSpace at RU >
Search Results
Results 1-41 of 41.
Item hits:
| Full Text | Issue Date | Title | Author(s) | | 2011 | A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44 | Schrauwen, 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 |
| 2011 | Variable 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. |
| 2011 | Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans. | Feenstra, I.; Vissers, L.E.L.M.; Pennings, R.J.E.; Nillesen, W.M.; Pfundt, R.; Kunst, H.P.; Admiraal, R.J.; Veltman, J.A.; Ravenswaaij-Arts, C.M.A. van; Brunner, H.G.; Cremers, C.W.R.J. |
| 2011 | Audiometric 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. |
| 2011 | Natural history of hearing deterioration in intracanalicular vestibular schwannoma | Pennings, R.J.E.; Morris, D.P.; Clarke, L.; Allen, S.; Walling, S.; Bance, M.L. |
| 2011 | Phenotypes of two Dutch DFNA3 families with mutations in GJB2 | Weegerink, N.J.D.; Pennings, R.J.E.; Huygen, P.L.M.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Kunst, H.P.M. |
| 2011 | Phenotype of the first otosclerosis family linked to OTSC10 | Weegerink, 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. |
| 2011 | The importance of an extended preoperative trial of BAHA in unilateral sensorineural hearing loss: a prospective cohort study | Pennings, R.J.E.; Gulliver, M.; Morris, D.P. |
| 2011 | Ear and hearing problems in relation to karyotype in children with Turner syndrome | Verver, 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. |
| 2011 | Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment | Schraders, 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. |
| 2011 | Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations | Weegerink, 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. |
| 2010 | Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin | Aller, E.; Jaijo, T.; Wijk, E. van; Ebermann, I.; Kersten, F.F.J.; Garcia-Garcia, G.; Voesenek, K.E.J.; Aparisi, M.J.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Diaz-Llopis, M.; Pennings, R.J.E.; Bolz, H.J.; Kremer, J.M.J.; Millan, J.M. |
| 2010 | Simple mass loading of the tympanic membrane to alleviate symptoms of patulous eustachian tube. | Bartlett, C.; Pennings, R.J.E.; Ho, A.; Kirkpatrick, D.; Wijhe, R. Van; Bance, M. |
| 2010 | Analysis of Vibrant Soundbridge placement against the round window membrane in a human cadaveric temporal bone model. | Pennings, R.J.E.; Ho, A.; Brown, J.; Wijhe, R.G. van; Bance, M. |
| 2010 | Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1 | Hogewind, B.F.T.; Pennings, R.J.E.; Hol, F.A.; Kunst, H.P.M.; Hoefsloot, E.H.; Cruysberg, J.R.M.; Cremers, C.W.R.J. |
| 2009 | Een occipitale zwelling als eerste symptomen van een spontane otogene pheumocephalus. | Pennings, R.J.E.; Liauw, L.; Cremers, C.W.R.J. |
| 2009 | A spontaneous otogenic extradural pneumocephalus. | Pennings, R.J.E.; Liauw, L.; Cremers, C.W.R.J. |
| 2009 | Audiometric characteristics of USH2a patients. | Leijendeckers, J.M.; Pennings, R.J.E.; Snik, A.F.M.; Bosman, A.J.; Cremers, C.W.R.J. |
| 2009 | Postauricular approach atticotomy: a modified closed technique with reconstruction of the scutum with cymbal cartilage. | Pennings, R.J.E.; Cremers, C.W.R.J. |
| 2009 | Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinoma. | Pennings, R.J.E.; Marres, H.A.M.; Heeten, A.M. den; Hoogen, F.J.A. van den |
| 2009 | Efficacy of diagnostic upper node evaluation during (salvage) laryngectomy for supraglottic carcinoma. | Pennings, R.J.E.; Marres, H.A.M.; Heeten, A.M. den; Hoogen, F.J.A. van den |
| 2009 | High-frequency ex vivo ultrasound imaging of the auditory system. | Brown, J.A.; Torbatian, Z.; Adamson, R.B.; Wijhe, R. Van; Pennings, R.J.E.; Lockwood, G.R.; Bance, M.L. |
| 2008 | Een spontane otogene pneumocephalus met een duraplaatdefect is niet zo'n onschuldige aandoening | Cremers, C.W.R.J.; Pennings, R.J.E. |
| 2008 | Head trauma as eliciting event in transient deterioration of sensorineural hearing loss and vertigo in Pendred-EVA syndrome | Honings, J.; Pennings, R.J.E.; Hoefsloot, L.H.; Joosten, F.B.M.; Mylanus, E.A.M.; Cremers, C.W.R.J. |
| 2008 | Hearing 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. |
| 2006 | Audiologic performance and benefit of cochlear implantation in Usher syndrome type I. | Pennings, R.J.E.; Damen, G.W.J.A.; Snik, A.F.M.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Mylanus, E.A.M. |
| 2006 | Cochleovestibular 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. |
| 2006 | Quality of life and cochlear implantation in Usher syndrome type I. | Damen, G.W.J.A.; Pennings, R.J.E.; Snik, A.F.M.; Mylanus, E.A.M. |
| 2006 | Visual 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. |
| 2005 | Phenotype 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. |
| 2005 | Vestibular 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. |
| 2005 | Serial 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. |
| 2004 | Hereditary deaf-blindness : Clinical and genetic aspects | Pennings, R.J.E. |
| 2004 | A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24. | Bogaert, K. van den; Leenheer, E. de; Chen, W.; Lee, Y.; Nurnberg, P.; Pennings, R.J.E.; Straeten, K. van der; Thys, M.; Cremers, C.W.R.J.; Smith, R.J.H.; Camp, G. van |
| 2004 | USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. | Pennings, R.J.E.; Brinke, H. te; Weston, M.D.; Claassen, A.M.W.; Orten, D.J.; Weekamp, H.; Aarem, A. van; Huygen, P.L.M.; Deutman, A.F.; Hoefsloot, L.H.; Cremers, F.P.M.; Cremers, C.W.R.J.; Kimberling, W.J.; Kremer, J.M.J. |
| 2004 | Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. | Wijk, E. van; Pennings, R.J.E.; Brinke, H. te; Claassen, A.M.W.; Yntema, H.G.; Hoefsloot, L.H.; Cremers, F.P.M.; Cremers, C.W.R.J.; Kremer, J.M.J. |
| 2004 | Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. | Pennings, R.J.E.; Huygen, P.L.M.; Ouweland, J.M.W. van den; Cryns, K.; Dikkeschei, L.D.; Camp, G. van; Cremers, C.W.R.J. |
| 2004 | Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). | Pennings, R.J.E.; Topsakal, V.; Astuto, L.M.; Brouwer, A.P.M. de; Wagenaar, M.; Huygen, P.L.M.; Kimberling, W.J.; Deutman, A.F.; Kremer, J.M.J.; Cremers, C.W.R.J. |
| 2004 | Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). | Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M.; Pennings, R.J.E.; Brunner, H.G.; Cremers, C.W.R.J.; Cremers, F.P.M.; Kremer, J.M.J. |
| 2004 | Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. | Pennings, R.J.E.; Huygen, P.L.M.; Orten, D.J.; Wagenaar, M.; Aarem, A. van; Kremer, J.M.J.; Kimberling, W.J.; Cremers, C.W.R.J.; Deutman, A.F. |
| 2004 | Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11) | Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M.; Pennings, R.J.E.; Brunner, H.G.; Cremers, C.W.R.J.; Cremers, F.P.M.; Kremer, J.M.J. |
1
|