Cremers FPM - Search Results

1

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jabłónska J, Rydzanicz M, Stawiński P, Ciara E, Lipska-Ziętkiewicz BS, Khan MI, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: cremers fpm. Mol Vis. 2021 Jul 16;27:457-465. eCollection 2021. Mol Vis. 2021. PMID: 34321860 Free PMC article.

2

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

van Lith-Verhoeven JJ, Cremers FP, van den Helm B, Hoyng CB, Deutman AF. van Lith-Verhoeven JJ, et al. Mol Vis. 2003 Apr 24;9:138-43. Mol Vis. 2003. PMID: 12724643 Free article.

3

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.

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. Mol Vis. 2005 Apr 15;11:263-73. Mol Vis. 2005. PMID: 15851977 Free article.

5

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. Mol Vis. 2007 Sep 27;13:1793-801. Mol Vis. 2007. PMID: 17960117

6

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.

7

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Azam M, Collin RW, Khan MI, Shah ST, Qureshi N, Ajmal M, den Hollander AI, Qamar R, Cremers FP. Azam M, et al. Mol Vis. 2009 Sep 5;15:1788-93. Mol Vis. 2009. PMID: 19753316 Free PMC article.

8

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R. Azam M, et al. Mol Vis. 2009 Dec 3;15:2526-34. Mol Vis. 2009. PMID: 19960070 Free PMC article.

9

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R. Azam M, et al. Mol Vis. 2010 Apr 29;16:774-81. Mol Vis. 2010. PMID: 20454696 Free PMC article.

10

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.

den Hollander AI, Black A, Bennett J, Cremers FP. den Hollander AI, et al. J Clin Invest. 2010 Sep;120(9):3042-53. doi: 10.1172/JCI42258. Epub 2010 Sep 1. J Clin Invest. 2010. PMID: 20811160 Free PMC article. Review.

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