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Page 1
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. Collin RW, et al. Among authors: cremers cw, cremers fp. Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510. Hum Mutat. 2007. PMID: 17373699
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP. Collin RW, et al. Among authors: cremers fp. Am J Hum Genet. 2008 Nov;83(5):594-603. doi: 10.1016/j.ajhg.2008.10.014. Epub 2008 Oct 30. Am J Hum Genet. 2008. PMID: 18976725 Free PMC article.
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Among authors: cremers fp. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074807
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. Littink KW, et al. Among authors: cremers fp. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3. Invest Ophthalmol Vis Sci. 2010. PMID: 20130272
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Nikopoulos K, et al. Among authors: cremers fp. Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016. Am J Hum Genet. 2010. PMID: 20159111 Free PMC article.
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D. Bandah-Rozenfeld D, et al. Among authors: cremers fp. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7. Invest Ophthalmol Vis Sci. 2010. PMID: 20375346 Free article.
398 results