Cremers FPM - Search Results

1

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.

de Bruijn SE, Fadaie Z, Cremers FPM, Kremer H, Roosing S. de Bruijn SE, et al. Among authors: cremers fpm. Int J Mol Sci. 2021 Mar 14;22(6):2943. doi: 10.3390/ijms22062943. Int J Mol Sci. 2021. PMID: 33799353 Free PMC article. Review.

2

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

3

Molecular genetics of Leber congenital amaurosis.

Cremers FP, van den Hurk JA, den Hollander AI. Cremers FP, et al. Hum Mol Genet. 2002 May 15;11(10):1169-76. doi: 10.1093/hmg/11.10.1169. Hum Mol Genet. 2002. PMID: 12015276 Review.

4

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. de Brouwer AP, et al. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556

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. Genomics. 2003 Oct;82(4):480-90. doi: 10.1016/s0888-7543(03)00150-2. Genomics. 2003. PMID: 13679028

6

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. Audiol Neurootol. 2004 Jan-Feb;9(1):34-46. doi: 10.1159/000074185. Audiol Neurootol. 2004. PMID: 14676472

7

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. 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.

8

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP. van Lith-Verhoeven JJ, et al. Invest Ophthalmol Vis Sci. 2004 Jan;45(1):30-5. doi: 10.1167/iovs.03-0392. Invest Ophthalmol Vis Sci. 2004. PMID: 14691150

9

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. van Wijk E, et al. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015129 Free PMC article.

10

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. 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

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