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5. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene. Pennings RJ; Huygen PL; Weston MD; van Aarem A; Wagenaar M; Kimberling WJ; Cremers CW Otol Neurotol; 2003 Jan; 24(1):58-63. PubMed ID: 12544030 [TBL] [Abstract][Full Text] [Related]
6. 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 MW; Van Wijk E; Bischoff AM; Krieger E; Huygen PL; Pennings RJ; Brunner HG; Cremers CW; Cremers FP; Kremer H Hum Genet; 2004 Jul; 115(2):149-56. PubMed ID: 15221449 [TBL] [Abstract][Full Text] [Related]
7. Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. Pauw RJ; van Drunen FJ; Collin RW; Huygen PL; Kremer H; Cremers CW Arch Otolaryngol Head Neck Surg; 2008 Mar; 134(3):294-300. PubMed ID: 18347256 [TBL] [Abstract][Full Text] [Related]
8. Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Kemperman MH; De Leenheer EM; Huygen PL; van Duijnhoven G; Morton CC; Robertson NG; Cremers FP; Kremer H; Cremers CW Otol Neurotol; 2005 Sep; 26(5):926-33. PubMed ID: 16151339 [TBL] [Abstract][Full Text] [Related]
9. A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Kemperman MH; De Leenheer EM; Huygen PL; van Wijk E; van Duijnhoven G; Cremers FP; Kremer H; Cremers CW Arch Otolaryngol Head Neck Surg; 2004 Mar; 130(3):281-8. PubMed ID: 15023833 [TBL] [Abstract][Full Text] [Related]
10. Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). Pennings RJ; Bom SJ; Cryns K; Flothmann K; Huygen PL; Kremer H; Van Camp G; Cremers CW Arch Otolaryngol Head Neck Surg; 2003 Apr; 129(4):421-6. PubMed ID: 12707188 [TBL] [Abstract][Full Text] [Related]
11. Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. Sun Y; Chen J; Sun H; Cheng J; Li J; Lu Y; Lu Y; Jin Z; Zhu Y; Ouyang X; Yan D; Dai P; Han D; Yang W; Wang R; Liu X; Yuan H J Hum Genet; 2011 Jan; 56(1):64-70. PubMed ID: 21150918 [TBL] [Abstract][Full Text] [Related]
12. Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. de Heer AM; Huygen PL; Collin RW; Oostrik J; Kremer H; Cremers CW Ann Otol Rhinol Laryngol; 2009 May; 118(5):382-90. PubMed ID: 19548389 [TBL] [Abstract][Full Text] [Related]
13. Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Pennings RJ; Huygen PL; Orten DJ; Wagenaar M; van Aarem A; Kremer H; Kimberling WJ; Cremers CW; Deutman AF Acta Ophthalmol Scand; 2004 Apr; 82(2):131-9. PubMed ID: 15043528 [TBL] [Abstract][Full Text] [Related]
14. Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). Pennings RJ; Topsakal V; Astuto L; de Brouwer AP; Wagenaar M; Huygen PL; Kimberling WJ; Deutman AF; Kremer H; Cremers CW Otol Neurotol; 2004 Sep; 25(5):699-706. PubMed ID: 15353998 [TBL] [Abstract][Full Text] [Related]
15. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Fishman GA; Grover S; Jacobson SG; Alexander KR; Derlacki DJ; Wu W; Buraczynska M; Swaroop A Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162 [TBL] [Abstract][Full Text] [Related]
16. Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis. Yamamoto N; Mutai H; Namba K; Goto F; Ogawa K; Matsunaga T Otol Neurotol; 2020 Jul; 41(6):e663-e673. PubMed ID: 32097363 [TBL] [Abstract][Full Text] [Related]
17. Vestibular function in families with inherited autosomal dominant hearing loss. Street VA; Kallman JC; Strombom PD; Bramhall NF; Phillips JO J Vestib Res; 2008; 18(1):51-8. PubMed ID: 18776598 [TBL] [Abstract][Full Text] [Related]
18. Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Di Leva F; D'Adamo P; Cubellis MV; D'Eustacchio A; Errichiello M; Saulino C; Auletta G; Giannini P; Donaudy F; Ciccodicola A; Gasparini P; Franzè A; Marciano E Audiol Neurootol; 2006; 11(3):157-64. PubMed ID: 16449806 [TBL] [Abstract][Full Text] [Related]
19. Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. Pennings RJ; Huygen PL; van den Ouweland JM; Cryns K; Dikkeschei LD; Van Camp G; Cremers CW Audiol Neurootol; 2004; 9(1):51-62. PubMed ID: 14676474 [TBL] [Abstract][Full Text] [Related]
20. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]