Cremers FP - 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: cremers cw, cremers fp. Otol Neurotol. 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. Otol Neurotol. 2005. PMID: 16151339

2

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al. Bach I, et al. Among authors: cremers cw, cremers fp. Am J Hum Genet. 1992 Jul;51(1):38-44. Am J Hum Genet. 1992. PMID: 1609803 Free PMC article.

3

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. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

4

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: cremers fp. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

5

Genetic fine mapping of the gene for recessive Stargardt disease.

Hoyng CB, Poppelaars F, van de Pol TJ, Kremer H, Pinckers AJ, Deutman AF, Cremers FP. Hoyng CB, et al. Among authors: cremers fp. Hum Genet. 1996 Oct;98(4):500-4. doi: 10.1007/s004390050247. Hum Genet. 1996. PMID: 8792830 Free article.

6

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: cremers fp. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

7

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

de Kok YJ, Cremers CW, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: cremers cw, cremers fp. Hum Mutat. 1997;10(3):207-11. doi: 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F. Hum Mutat. 1997. PMID: 9298820 Free article.

8

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. de Kok YJ, et al. Among authors: cremers cw, cremers fp. Hum Mol Genet. 1999 Feb;8(2):361-6. doi: 10.1093/hmg/8.2.361. Hum Mol Genet. 1999. PMID: 9931344

9

Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.

Bom SJ, Kemperman MH, De Kok YJ, Huygen PL, Verhagen WI, Cremers FP, Cremers CW. Bom SJ, et al. Among authors: cremers cw, cremers fp. Laryngoscope. 1999 Sep;109(9):1525-30. doi: 10.1097/00005537-199909000-00031. Laryngoscope. 1999. PMID: 10499067

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: cremers fp. Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004. Genomics. 1999. PMID: 10644430

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