Výsledky vyhledávání - "Anne M. L. C. Bischoff"

Cochleovestibular and Ocular Features in a Dutch DFNA11 Family

Autor: Erwin van Wijk, Johannes R.M. Cruysberg, Cor W. R. J. Cremers, Anne M. L. C. Bischoff, Mirjam W. J. Luijendijk, Ronald J.E. Pennings, Patrick L. M. Huygen, Hannie Kremer

Publikováno v: Otology & Neurotology, 27, 3, pp. 323-31
Otology & Neurotology, 27, 323-31

Contains fulltext : 50720.pdf (Publisher’s version ) (Closed access) OBJECTIVES: To report hearing impairment and vestibular and ocular features in a Dutch DFNA11 family and to compare these results to reported data on three other DFNA11 families.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7612296a7db47680a8d4b7ad9eb3dc7a
https://doi.org/10.1097/00129492-200604000-00006

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A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c690120ff66cfd968efc11c52518f76
https://doi.org/10.1159/000074185

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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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Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

Autor: Anne M. L. C. Bischoff, Patrick L. M. Huygen, Elmar Krieger, Cor W. R. J. Cremers, Erwin van Wijk, Han G. Brunner, Mirjam W. J. Luijendijk, Frans P.M. Cremers, Ronald J.E. Pennings, Hannie Kremer

Publikováno v: Human Genetics, 115, 2, pp. 149-56
Human Genetics, 115, 149-56
Human Genetics, 115, 149-156
Human Genetics, 115, 2, pp. 149-156

Contains fulltext : 58223.pdf (Publisher’s version ) (Closed access) Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952f87137984eed6ad9220fb61a57142
https://pubmed.ncbi.nlm.nih.gov/15221449

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A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

Autor: Anne M L C, Bischoff, Mirjam W J, Luijendijk, Patrick L M, Huygen, Gerard, van Duijnhoven, Els M R, De Leenheer, Grétel G, Oudesluijs, Lut, Van Laer, Frans P M, Cremers, Cor W R J, Cremers, Hannie, Kremer

Publikováno v: Audiologyneuro-otology. 9(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3ac394b34508b551cb21fdfdd2e10294
https://pubmed.ncbi.nlm.nih.gov/14676472

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