Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Martijn H, Kemperman"'
1
Audiometric, Vestibular, and Genetic Aspects of a DFNA9 Family with a G88E COCH Mutation
Autor: Martijn H. Kemperman, Els De Leenheer, Cynthia C. Morton, Frans P.M. Cremers, Patrick L. M. Huygen, Hannie Kremer, Gerard van Duijnhoven, Nahid G. Robertson, Cor W. R. J. Cremers
Publikováno v: Otology & Neurotology, 26, 5, pp. 926-33
Otology & Neurotology, 26, 926-33
Contains fulltext : 47623.pdf (Publisher’s version ) (Closed access) OBJECTIVES: To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impair
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e1968d548b5f843e63f627afec46ef
https://doi.org/10.1097/01.mao.0000185062.12458.87
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2
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations
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
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8ab72462bbb159e138fffe2d26b0e1e
https://doi.org/10.1016/j.ijporl.2004.08.015
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3
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment
Autor: Erwin van Wijk, Els De Leenheer, Cor W. R. J. Cremers, Martijn H. Kemperman, Frans P.M. Cremers, Patrick L. M. Huygen, Hannie Kremer, Gerard van Duijnhoven
Publikováno v: Archives of Otolaryngology--Head & Neck Surgery, 130, 3, pp. 281-8
Archives of Otolaryngology--Head & Neck Surgery, 130, 281-8
Contains fulltext : 57357.pdf (Publisher’s version ) (Closed access) OBJECTIVES: To perform linkage analysis and to outline hearing loss characteristics in a family exhibiting a nonsyndromic, autosomal dominant type of progressive sensorineural hea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abc3bef1c2031c420bccfb6989c97a3
https://hdl.handle.net/2066/57357
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4
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)
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
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8911cd6f9890ebfa4b2723d9fdc6604b
https://doi.org/10.1136/jmg.40.12.879
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5
Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH
Autor: Martijn H. Kemperman, Mirjam W. J. Luijendijk, Patrick L. M. Huygen, Cor W. R. J. Cremers, Steven J. H. Bom
Publikováno v: Annals of Otology, Rhinology and Laryngology, 112, 3, pp. 280-6
Annals of Otology, Rhinology and Laryngology, 112, 280-6
Item does not contain fulltext Hearing threshold was analyzed for each frequency in relation to age in 88 members of a large Dutch family with cochleovestibular impairment caused by a P51S mutation in the COCH gene within the DFNA9 locus (chromosome
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1902d7aeeff2282ca9a85d3eb84bdd95
https://hdl.handle.net/2066/144474
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6
Hearing loss and connexin 26
Autor: Martijn H. Kemperman, Lies H. Hoefsloot, Cor W. R. J. Cremers
Publikováno v: Journal of the Royal Society of Medicine, 95, 171-7
Journal of the Royal Society of Medicine, 95, 4, pp. 171-7
Hearing impairment is a sensory disability that affects millions of people all over the world. Though not life-threatening, it can become a major burden in social and professional life. In the industrialized world, deafness of infective and/or enviro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ac9048d3d37ae315c7bdda52e1c876
https://hdl.handle.net/2066/120694
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7
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH
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
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce62686768aac3eddd786503df5d8980
https://doi.org/10.1001/archotol.127.9.1045
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8
Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers
Autor: Ronald J.E. Pennings, Hannie Kremer, Steven J. H. Bom, Ronald J.C. Admiraal, Patrick L. M. Huygen, Wim I. M. Verhagen, Anne M. L. C. Bischoff, Martijn H. Kemperman, Cor W. R. J. Cremers
Publikováno v: Otology & Neurotology, 26, 5, pp. 918-25
Otology & Neurotology, 26, 918-25
Contains fulltext : 48221.pdf (Publisher’s version ) (Closed access) OBJECTIVES: To analyze cochleovestibular impairment features in P51S COCH mutation carriers (n = 22) in a new, large Dutch family and to compare the results to those obtained in p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f5e9ff2b1b946818743c3017bf531fd
https://hdl.handle.net/2066/48221
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10
The Branchio-Oto-Renal Syndrome
Autor: Martijn H. Kemperman, C.I.C. Stinckens, Shrawan Kumar, Frank B.M. Joosten, Patrick L. M. Huygen, Cor W. R. J. Cremers
Publisher Summary This chapter presents information on the diagnosis, genetics, and most characteristic symptoms of branchio-oto-renal (BOR) syndrome. The BOR syndrome is a Mendelian developmental disorder with branchial, otic, and renal manifestatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e00f1f443dbf4a6ee6ba20a091273314
https://doi.org/10.1159/000066809
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