Cremers CW - Search Results

1

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).

Collin RW, Pauw RJ, Schoots J, Huygen PL, Hoefsloot LH, Cremers CW, Kremer H. Collin RW, et al. Among authors: cremers cw. Am J Med Genet A. 2006 Aug 15;140(16):1791-4. doi: 10.1002/ajmg.a.31354. Am J Med Genet A. 2006. PMID: 16835921 No abstract available.

2

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: cremers cw, cremers fp. 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.

3

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

Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Luijendijk MW, et al. Among authors: cremers cw, cremers fp. Hum Genet. 2004 Jul;115(2):149-56. doi: 10.1007/s00439-004-1137-3. Epub 2004 Jun 2. Hum Genet. 2004. PMID: 15221449

4

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

de Brouwer AP, Kunst HP, Krebsova A, van Asseldonk K, Reis A, Snoeckx RL, Van Camp G, Cremers CW, Cremers FP, Kremer H. de Brouwer AP, et al. Among authors: cremers cw, cremers fp. Am J Med Genet A. 2005 Aug 15;137(1):41-6. doi: 10.1002/ajmg.a.30844. Am J Med Genet A. 2005. PMID: 16007628

5

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Pauw RJ, Collin RW, Huygen PL, Hoefsloot LH, Kremer H, Cremers CW. Pauw RJ, et al. Among authors: cremers cw. Audiol Neurootol. 2007;12(2):77-84. doi: 10.1159/000097794. Epub 2006 Dec 6. Audiol Neurootol. 2007. PMID: 17264471

6

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

Bischoff AM, Pauw RJ, Huygen PL, Aandekerk AL, Kremer H, Cremers CW, Cruysberg JR. Bischoff AM, et al. Among authors: cremers cw. Am J Ophthalmol. 2007 May;143(5):847-852. doi: 10.1016/j.ajo.2007.01.037. Epub 2007 Mar 19. Am J Ophthalmol. 2007. PMID: 17368553

7

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW. Pauw RJ, et al. Among authors: cremers cw. Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57. doi: 10.1177/000348940711600506. Ann Otol Rhinol Laryngol. 2007. PMID: 17561763

8

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H. Schraders M, et al. Among authors: cremers cw. Am J Hum Genet. 2010 Apr 9;86(4):604-10. doi: 10.1016/j.ajhg.2010.02.015. Epub 2010 Mar 25. Am J Hum Genet. 2010. PMID: 20346435 Free PMC article.

9

Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.

Pauw RJ, Huygen PL, Colditz GM, Cremers CW. Pauw RJ, et al. Among authors: cremers cw. Ann Otol Rhinol Laryngol. 2011 Jun;120(6):414-21. doi: 10.1177/000348941112000612. Ann Otol Rhinol Laryngol. 2011. PMID: 21774451

10

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G. Snoeckx RL, et al. Among authors: cremers cw. J Med Genet. 2004 Jan;41(1):11-3. doi: 10.1136/jmg.2003.010702. J Med Genet. 2004. PMID: 14729819 Free PMC article.

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