Cremers FPM - Search Results

1

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina.

Tornabene P, Trapani I, Minopoli R, Centrulo M, Lupo M, de Simone S, Tiberi P, Dell'Aquila F, Marrocco E, Iodice C, Iuliano A, Gesualdo C, Rossi S, Giaquinto L, Albert S, Hoyng CB, Polishchuk E, Cremers FPM, Surace EM, Simonelli F, De Matteis MA, Polishchuk R, Auricchio A. Tornabene P, et al. Among authors: cremers fpm. Sci Transl Med. 2019 May 15;11(492):eaav4523. doi: 10.1126/scitranslmed.aav4523. Sci Transl Med. 2019. PMID: 31092694 Free PMC article.

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

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.

den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP. den Hollander AI, et al. Hum Genet. 1999 Jan;104(1):73-6. doi: 10.1007/s004390050912. Hum Genet. 1999. PMID: 10071195

4

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.

Klevering BJ, van Driel M, van de Pol DJ, Pinckers AJ, Cremers FP, Hoyng CB. Klevering BJ, et al. Br J Ophthalmol. 1999 Aug;83(8):914-8. doi: 10.1136/bjo.83.8.914. Br J Ophthalmol. 1999. PMID: 10413692 Free PMC article.

5

Central areolar choroidal dystrophy associated with dominantly inherited drusen.

Klevering BJ, van Driel M, van Hogerwou AJ, van De Pol DJ, Deutman AF, Pinckers AJ, Cremers FP, Hoyng CB. Klevering BJ, et al. Br J Ophthalmol. 2002 Jan;86(1):91-6. doi: 10.1136/bjo.86.1.91. Br J Ophthalmol. 2002. PMID: 11801511 Free PMC article.

6

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).

van Lith-Verhoeven JJ, van der Velde-Visser SD, Sohocki MM, Deutman AF, Brink HM, Cremers FP, Hoyng CB. van Lith-Verhoeven JJ, et al. Ophthalmic Genet. 2002 Mar;23(1):1-12. doi: 10.1076/opge.23.1.1.2206. Ophthalmic Genet. 2002. PMID: 11910553

7

Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.

Schulz HL, Stoehr H, White K, van Driel MA, Hoyng CB, Cremers F, Weber BH. Schulz HL, et al. Mol Vis. 2002 Mar 19;8:67-71. Mol Vis. 2002. PMID: 11951088 Free article.

8

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624

9

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K. Klevering BJ, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5. Invest Ophthalmol Vis Sci. 2002. PMID: 12037008

10

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP, Maugeri A, Klevering BJ, Hoefsloot LH, Hoyng CB. Cremers FP, et al. Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Ned Tijdschr Geneeskd. 2002. PMID: 12224481 Review. Dutch.

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