Kremer H - Search Results

1

[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW. Pennings RJ, et al. Among authors: kremer h. Ned Tijdschr Geneeskd. 2002 Dec 7;146(49):2354-8. Ned Tijdschr Geneeskd. 2002. PMID: 12510399 Review. Dutch.

2

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].

Cremers CW, Plantinga RF, Kremer H. Cremers CW, et al. Among authors: kremer h. Ned Tijdschr Geneeskd. 2007 Mar 3;151(9):531-4. Ned Tijdschr Geneeskd. 2007. PMID: 17373394 Review. Dutch.

3

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: kremer h. Hum Genet. 1996 Oct;98(4):500-4. doi: 10.1007/s004390050247. Hum Genet. 1996. PMID: 8792830 Free article.

4

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H. van Wijk E, et al. Among authors: kremer h. J Med Genet. 2003 Dec;40(12):879-84. doi: 10.1136/jmg.40.12.879. J Med Genet. 2003. PMID: 14684684 Free PMC article.

5

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. Kalay E, et al. Among authors: kremer h. J Mol Med (Berl). 2005 Dec;83(12):1025-32. doi: 10.1007/s00109-005-0719-4. Epub 2005 Nov 8. J Mol Med (Berl). 2005. PMID: 16283141

6

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Kalay E, et al. Among authors: kremer h. Hum Mutat. 2005 Dec;26(6):591. doi: 10.1002/humu.9384. Hum Mutat. 2005. PMID: 16287143

7

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.

Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H. Kalay E, et al. Among authors: kremer h. J Mol Med (Berl). 2007 Apr;85(4):397-404. doi: 10.1007/s00109-006-0136-3. Epub 2007 Jan 9. J Mol Med (Berl). 2007. PMID: 17211611

8

Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

de Heer AR, Pauw RJ, Huygen PL, Collin RW, Kremer H, Cremers CW. de Heer AR, et al. Among authors: kremer h. Audiol Neurootol. 2009;14(3):153-62. doi: 10.1159/000171477. Epub 2008 Nov 13. Audiol Neurootol. 2009. PMID: 19005249

9

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.

Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP. Weegerink NJ, et al. Among authors: kremer h. Hear Res. 2011 Dec;282(1-2):243-51. doi: 10.1016/j.heares.2011.07.006. Epub 2011 Jul 23. Hear Res. 2011. PMID: 21810457

10

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.

Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP. Weegerink NJ, et al. Among authors: kremer h. Hear Res. 2011 Dec;282(1-2):167-77. doi: 10.1016/j.heares.2011.08.010. Epub 2011 Aug 27. Hear Res. 2011. PMID: 21893181

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