Výsledky vyhledávání - "Gerard van Duijnhoven"

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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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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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)

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=pmid________::3ac394b34508b551cb21fdfdd2e10294
https://pubmed.ncbi.nlm.nih.gov/14676472

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Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene

Autor: Wolfgang Berger, Wieslawa Myga, Jacek Zaremba, Silke Feil, Jadwiga Juszko, Gerard van Duijnhoven

Publikováno v: Scopus-Elsevier

To describe the phenotypic variability in a Polish Norrie disease (ND) family associated with the missense mutation A63D.A patient with spared vision from a Polish ND family underwent detailed ophthalmological examinations including slit-lamp biomicr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe5feb932c6f2acade66e22d9cb29910
https://pubmed.ncbi.nlm.nih.gov/9810571

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Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)

Autor: Hans-Hilger Ropers, Frans P.M. Cremers, Gerard van Duijnhoven, Thomas Rosenberg, Ronald Roepman, Wolfgang Berger, André Rosenthal, Matthias Platzer, Esther van de Vosse, David Bauer

Publikováno v: Human Molecular Genetics, 5, 6, pp. 827-833
Human Molecular Genetics, 5, 827-833

The gene for the most frequent from of X-linked retinitis pigmentosa (XLRP), RP3, has been assigned by genetic and physical mapping to a segment of less than 1000 kbp, which is flanked by the marker DXS1110 and the ornithine transcarbamylase (OTC) ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59d865615292f6d7bfd031ce72290bd8
https://hdl.handle.net/2066/24063

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Continuous beta-galactosidase production in insect cells with a p10 gene based baculovirus vector in a two-stage bioreactor system

Autor: Just M. Vlak, Johannes Tramper, Frank L. J. Van Lier, C. F. Gerard Van Duijnhoven, Miranda M. J. A. C. M. De Vaan

Publikováno v: Biotechnology progress. 10(1)

Continuous production of polyhedra or baculovirus-expressed proteins in insect cell cultures is limited to about 4 weeks. The decrease in production has been ascribed to the interference of defective deletion mutants with wild-type baculoviruses. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::905788ec2bc3e5a920aaebf1b1529993
https://pubmed.ncbi.nlm.nih.gov/7764528

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