van Duijnhoven G - Search Results

1

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. Kemperman MH, et al. Among authors: van duijnhoven g. Otol Neurotol. 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. Otol Neurotol. 2005. PMID: 16151339

2

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

Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H. Bischoff AM, et al. Among authors: van duijnhoven g. Audiol Neurootol. 2004 Jan-Feb;9(1):34-46. doi: 10.1159/000074185. Audiol Neurootol. 2004. PMID: 14676472

3

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. Kemperman MH, et al. Among authors: van duijnhoven g. Arch Otolaryngol Head Neck Surg. 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. Arch Otolaryngol Head Neck Surg. 2004. PMID: 15023833

4

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).

Kunst H, Marres H, Huygen P, van Duijnhoven G, Krebsova A, van der Velde S, Reis A, Cremers F, Cremers C. Kunst H, et al. Among authors: van der velde s, van duijnhoven g. Clin Otolaryngol Allied Sci. 2000 Feb;25(1):45-54. doi: 10.1046/j.1365-2273.2000.00327.x. Clin Otolaryngol Allied Sci. 2000. PMID: 10764236

5

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.

Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP. Luijendijk MW, et al. Among authors: van duijnhoven g. Genomics. 2003 Oct;82(4):480-90. doi: 10.1016/s0888-7543(03)00150-2. Genomics. 2003. PMID: 13679028

6

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H. Gommans IM, et al. Among authors: van duijnhoven g. Brain. 2003 Jul;126(Pt 7):1545-51. doi: 10.1093/brain/awg162. Epub 2003 Jun 4. Brain. 2003. PMID: 12805120

7

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Among authors: van duijnhoven g. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

8

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: van duijnhoven g. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

9

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

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: van de vosse e, van duijnhoven g. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

10

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. Yntema HG, et al. Among authors: van bokhoven h, van den helm b, van duijnhoven g. Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004. Genomics. 1999. PMID: 10644430

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