Zobrazeno 1 - 10
of 492
pro vyhledávání: '"C.W.R.J. Cremers"'
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f0362e79416640e15fb24d1cb433d1a
https://doi.org/10.1093/med/9780199934522.003.0129
https://doi.org/10.1093/med/9780199934522.003.0129
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 72:1455-1459
Autor:
Yurii S. Aulchenko, Kim P. van der Donk, C.W.R.J. Cremers, Martijn H. Kemperman, Patrick L.M. Huygen, Ilse J. de Wijs, H. Kremer, Ronald J.C. Admiraal, L. H. Hoefsloot, Regie Lyn P. Santos
Publikováno v:
International Journal of Pediatric Otorhinolaryngology, 69, 2, pp. 165-74
International Journal of Pediatric Otorhinolaryngology, 69, 165-74
International Journal of Pediatric Otorhinolaryngology, 69, 165-74
Contains fulltext : 47759.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairmen
Autor:
E.M.R. De Leenheer, Melissa Thys, Wenjie Chen, Y Lee, Peter Nürnberg, C.W.R.J. Cremers, Richard J.H. Smith, K Van Den Bogaert, G. Van Camp, Ronald J.E. Pennings, Kathleen Vanderstraeten
Publikováno v:
Journal of Medical Genetics, 41, 6, pp. 450-3
Journal of medical genetics
Journal of Medical Genetics, 41, 450-3
Scopus-Elsevier
Journal of medical genetics
Journal of Medical Genetics, 41, 450-3
Scopus-Elsevier
Otosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer to inner ear is disturbed by this fixation, the disease
Autor:
C.W.R.J. Cremers, A.F.M. Snik
Publikováno v:
Clinical Otolaryngology and Allied Sciences, 29, 5-9
Clinical Otolaryngology and Allied Sciences, 29, 1, pp. 5-9
Clinical Otolaryngology and Allied Sciences, 29, 1, pp. 5-9
Contains fulltext : 58546.pdf (Publisher’s version ) (Closed access) Typically, an implantable hearing device consists of a transducer that is coupled to the ossicular chain and electronics. The coupling is of major importance. The Vibrant Soundbri
Autor:
Patrick L. M. Huygen, G. van Duijnhoven, Hubertus P. H. Kremer, Mirjam W. J. Luijendijk, Grétel Oudesluijs, F.P.M. Cremers, Anne M. L. C. Bischoff, E.M.R. De Leenheer, C.W.R.J. Cremers, L. Van Laer
Publikováno v:
Audiology and Neurotology. 9:34-46
A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of intron 7, leading to skipping of exon 8 in part of the transcripts. The mutation was found
Autor:
Patrick L. M. Huygen, C.W.R.J. Cremers, E.M.R. De Leenheer, Martijn H. Kemperman, E van Wijk, F. P. M. Cremers, Elmar Krieger, H. Kremer
Publikováno v:
Journal of Medical Genetics, 40, 879-84
Journal of Medical Genetics, 40, 12, pp. 879-84
Journal of Medical Genetics, 40, 12, pp. 879-84
Item does not contain fulltext Linkage analysis in a multigenerational family with autosomal dominant hearing loss yielded a chromosomal localisation of the underlying genetic defect in the DFNA20/26 locus at 17q25-qter. The 6-cM critical region harb
Publikováno v:
Otology & Neurotology, 23, 2, pp. 200-7
Otology & Neurotology, 23, 200-7
Otology & Neurotology, 23, 200-7
Item does not contain fulltext OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a f
Autor:
Richard J.H. Smith, M. Verstreken, E.M.R. De Leenheer, F.E. Offeciers, P. Van de Heyning, Wenjie Chen, C.W.R.J. Cremers, K Van Den Bogaert, T. Somers, Frank Declau, G. Van Camp, Paul J. Govaerts, Isabelle Schatteman
Publikováno v:
Bone, 30, 624-630
Bone, 30, 4, pp. 624-630
Bone
Bone, 30, 4, pp. 624-630
Bone
Otosclerosis is caused by abnormal bone homeostasis of the otic capsule, resulting in hearing impairment in 0.3%–0.4% of the white population. The etiology of the disease remains unclear and environmental as well as genetic factors have been implic
Autor:
E.M.R. De Leenheer, Martijn H. Kemperman, C.W.R.J. Cremers, G. Van Camp, F. P. M. Cremers, Arjan J. Bosman, Henri A. M. Marres, Francois X Lemaire, R.J.H. Ensink, Steven J. H. Bom, Patrick L. M. Huygen, Wim I. M. Verhagen, Henricus P. M. Kunst
Publikováno v:
Archives of otolaryngology, head and neck surgery
Archives of Otolaryngology--Head & Neck Surgery, 127, 1045-8
Archives of Otolaryngology--Head & Neck Surgery, 127, 9, pp. 1045-8
Archives of Otolaryngology--Head & Neck Surgery, 127, 1045-8
Archives of Otolaryngology--Head & Neck Surgery, 127, 9, pp. 1045-8
Item does not contain fulltext OBJECTIVE: To analyze the relationship between pure-tone hearing threshold and speech recognition performance in DFNA2/KCNQ4 and DFNA9/COCH, 2 types of high-frequency nonsyndromic hearing impairment. DESIGN: Case series