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Items: 1 to 20 of 106

1.

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.

Garanto A, Duijkers L, Tomkiewicz TZ, Collin RWJ.

Genes (Basel). 2019 Jun 14;10(6). pii: E452. doi: 10.3390/genes10060452.

2.

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.

Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI.

Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531.

PMID:
31074760
3.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E.

Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. [Epub ahead of print]

PMID:
30670881
4.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM.

Genet Med. 2019 Jan 15. doi: 10.1038/s41436-018-0414-9. [Epub ahead of print]

PMID:
30643219
5.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817.

PMID:
30193310
6.

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Karjosukarso DW, Cremers FPM, van Nouhuys CE, Collin RWJ.

Eur J Hum Genet. 2018 Dec;26(12):1819-1823. doi: 10.1038/s41431-018-0243-y. Epub 2018 Sep 4.

PMID:
30181612
7.

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.

Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt DA, Schulkens I, Chan HL, Schmidt I, Beumer W, Vorthoren L, Collin RWJ, Garanto A, Duijkers L, Brugulat-Panes A, Semo M, Vugler AA, Biasutto P, Adamson P, Cheetham ME.

Mol Ther Nucleic Acids. 2018 Sep 7;12:730-740. doi: 10.1016/j.omtn.2018.07.010. Epub 2018 Jul 23.

8.

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish.

Messchaert M, Dona M, Broekman S, Peters TA, Corral-Serrano JC, Slijkerman RWN, van Wijk E, Collin RWJ.

PLoS One. 2018 Jul 27;13(7):e0200789. doi: 10.1371/journal.pone.0200789. eCollection 2018.

9.

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

Karjosukarso DW, van Gestel SHC, Qu J, Kouwenhoven EN, Duijkers L, Garanto A, Zhou H, Collin RWJ.

Hum Mol Genet. 2018 Oct 15;27(20):3519-3527. doi: 10.1093/hmg/ddy244.

PMID:
29982478
10.

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish.

Corral-Serrano JC, Messchaert M, Dona M, Peters TA, Kamminga LM, van Wijk E, Collin RWJ.

Sci Rep. 2018 Jun 26;8(1):9675. doi: 10.1038/s41598-018-27928-7.

11.

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.

Garanto A, van der Velde-Visser SD, Cremers FPM, Collin RWJ.

Adv Exp Med Biol. 2018;1074:83-89. doi: 10.1007/978-3-319-75402-4_11.

PMID:
29721931
12.

Non-syndromic retinitis pigmentosa.

Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ.

Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Review.

13.

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM.

Am J Hum Genet. 2018 Apr 5;102(4):517-527. doi: 10.1016/j.ajhg.2018.02.008. Epub 2018 Mar 8.

14.

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.

Duijkers L, van den Born LI, Neidhardt J, Bax NM, Pierrache LHM, Klevering BJ, Collin RWJ, Garanto A.

Int J Mol Sci. 2018 Mar 7;19(3). pii: E753. doi: 10.3390/ijms19030753.

15.

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.

Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI.

Genes (Basel). 2018 Mar 7;9(3). pii: E145. doi: 10.3390/genes9030145.

16.

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.

Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI.

Genes (Basel). 2018 Jan 30;9(2). pii: E68. doi: 10.3390/genes9020068. Erratum in: Genes (Basel). 2018 Mar 07;9(3):.

17.

Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.

Garanto A, Collin RWJ.

Methods Mol Biol. 2018;1715:61-78. doi: 10.1007/978-1-4939-7522-8_5.

PMID:
29188506
18.

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.

Genome Res. 2018 Jan;28(1):100-110. doi: 10.1101/gr.226621.117. Epub 2017 Nov 21.

19.

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Messchaert M, Haer-Wigman L, Khan MI, Cremers FPM, Collin RWJ.

Hum Mutat. 2018 Feb;39(2):177-186. doi: 10.1002/humu.23371. Epub 2017 Dec 26.

PMID:
29159838
20.

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease.

de Haas R, Das D, Garanto A, Renkema HG, Greupink R, van den Broek P, Pertijs J, Collin RWJ, Willems P, Beyrath J, Heerschap A, Russel FG, Smeitink JA.

Sci Rep. 2017 Sep 15;7(1):11733. doi: 10.1038/s41598-017-09417-5.

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