Cremers FPM - Search Results

1

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Sangermano R, Khan M, Cornelis SS, Richelle V, Albert S, Garanto A, Elmelik D, Qamar R, Lugtenberg D, van den Born LI, Collin RWJ, Cremers FPM. Sangermano R, et al. Among authors: cremers fpm. Genome Res. 2018 Jan;28(1):100-110. doi: 10.1101/gr.226621.117. Epub 2017 Nov 21. Genome Res. 2018. PMID: 29162642 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

[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.

4

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496

5

The expanding roles of ABCA4 and CRB1 in inherited blindness.

Cremers FP, Maugeri A, den Hollander AI, Hoyng CB. Cremers FP, et al. Novartis Found Symp. 2004;255:68-79; discussion 79-84, 177-8. doi: 10.1002/0470092645.ch6. Novartis Found Symp. 2004. PMID: 14750597

6

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.

7

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. Eur J Hum Genet. 2004 Dec;12(12):1024-32. doi: 10.1038/sj.ejhg.5201258. Eur J Hum Genet. 2004. PMID: 15494742

8

[From gene to disease; Leber congenital amaurosis (LCA)].

Yzer S, van den Born LI, Cremers FP, den Hollander AI. Yzer S, et al. Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7. Ned Tijdschr Geneeskd. 2005. PMID: 16261712 Review. Dutch.

9

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. 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.

10

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389

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