Cremers FP - Search Results

1

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW. Garanto A, et al. Among authors: cremers fp. PLoS One. 2013 Nov 6;8(11):e79369. doi: 10.1371/journal.pone.0079369. eCollection 2013. PLoS One. 2013. PMID: 24223178 Free PMC article.

2

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: cremers fp. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

3

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: cremers fp. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

4

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. Kirschner R, et al. Among authors: cremers fp. Hum Mol Genet. 1999 Aug;8(8):1571-8. doi: 10.1093/hmg/8.8.1571. Hum Mol Genet. 1999. PMID: 10401007

5

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA. Roepman R, et al. Among authors: cremers fp. Hum Mol Genet. 2000 Sep 1;9(14):2095-105. doi: 10.1093/hmg/9.14.2095. Hum Mol Genet. 2000. PMID: 10958648

6

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.

7

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. Among authors: cremers fp. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.

8

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.

9

MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.

Kantardzhieva A, Gosens I, Alexeeva S, Punte IM, Versteeg I, Krieger E, Neefjes-Mol CA, den Hollander AI, Letteboer SJ, Klooster J, Cremers FP, Roepman R, Wijnholds J. Kantardzhieva A, et al. Among authors: cremers fp. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2192-201. doi: 10.1167/iovs.04-1417. Invest Ophthalmol Vis Sci. 2005. PMID: 15914641

10

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP. Roepman R, et al. Among authors: cremers fp. Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18520-5. doi: 10.1073/pnas.0505774102. Epub 2005 Dec 9. Proc Natl Acad Sci U S A. 2005. PMID: 16339905 Free PMC article.

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