Cremers FP - Search Results

1

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C. Ávila-Fernández A, et al. Among authors: cremers fp. Mol Vis. 2010 Dec 3;16:2550-8. Mol Vis. 2010. PMID: 21151602 Free PMC article.

2

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Cremers FP, et al. Hum Mol Genet. 1998 Mar;7(3):355-62. doi: 10.1093/hmg/7.3.355. Hum Mol Genet. 1998. PMID: 9466990

3

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP. Klevering BJ, et al. Among authors: cremers fp. Eur J Hum Genet. 2004 Dec;12(12):1024-32. doi: 10.1038/sj.ejhg.5201258. Eur J Hum Genet. 2004. PMID: 15494742

4

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI. van den Hurk JA, et al. Among authors: cremers fp. Mol Vis. 2005 Apr 15;11:263-73. Mol Vis. 2005. PMID: 15851977 Free article.

5

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Zernant J, et al. Among authors: cremers fp. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. doi: 10.1167/iovs.05-0111. Invest Ophthalmol Vis Sci. 2005. PMID: 16123401

6

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Yzer S, et al. Among authors: cremers fp. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76. doi: 10.1167/iovs.05-0848. Invest Ophthalmol Vis Sci. 2006. PMID: 16505055 Free article.

7

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. Among authors: cremers cw. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 Free PMC article.

8

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP. Koenekoop RK, et al. Among authors: cremers fp. Clin Exp Ophthalmol. 2007 Jul;35(5):473-85. doi: 10.1111/j.1442-9071.2007.01534.x. Clin Exp Ophthalmol. 2007. PMID: 17651254 Review.

9

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

Yzer S, van den Born LI, Zonneveld MN, Lopez I, Ayyagari R, Teye-Botchway L, Mota-Vieira L, Cremers FP, Koenekoop RK. Yzer S, et al. Among authors: cremers fp. Mol Vis. 2007 Aug 31;13:1568-72. Mol Vis. 2007. PMID: 17893657

10

Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.

Hogewind BF, Gaplovska-Kysela K, Theelen T, Cremers FP, Yam GH, Hoyng CB, Mukhopadhyay A. Hogewind BF, et al. Among authors: cremers fp. Mol Vis. 2007 Sep 27;13:1793-801. Mol Vis. 2007. PMID: 17960117

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