Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 295

1.

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.

Vázquez-Domínguez I, Garanto A, Collin RWJ.

Genes (Basel). 2019 Aug 28;10(9). pii: E654. doi: 10.3390/genes10090654. Review.

2.

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.

3.

P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines.

Timmermans-Sprang E, Collin R, Henkes A, Philipsen M, Mol JA.

Oncotarget. 2019 Apr 26;10(31):2930-2946. doi: 10.18632/oncotarget.26873. eCollection 2019 Apr 26.

4.

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
5.

Larvae of Caribbean Echinoids Have Small Warming Tolerances for Chronic Stress in Panama.

Perricone V, Collin R.

Biol Bull. 2019 Apr;236(2):115-129. doi: 10.1086/701666. Epub 2019 Jan 29.

PMID:
30933644
6.

Reference DNA barcodes and other mitochondrial markers for identifying Caribbean Octocorals.

Morín JG, Venera-Pontón DE, Driskell AC, Sánchez JA, Lasker HR, Collin R.

Biodivers Data J. 2019 Feb 20;(7):e30970. doi: 10.3897/BDJ.7.e30970. eCollection 2019.

7.

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 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23.

8.

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 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15.

9.

Common Heritable Immunological Variations Revealed in Genetically Diverse Inbred Mouse Strains of the Collaborative Cross.

Collin R, Balmer L, Morahan G, Lesage S.

J Immunol. 2019 Feb 1;202(3):777-786. doi: 10.4049/jimmunol.1801247. Epub 2018 Dec 26.

PMID:
30587532
10.

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
11.

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
12.

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.

13.

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.

14.

Long-term outcomes after cosmetic customized prostheses and dermis fat graft in congenital anophthalmia: a retrospective multicentre study.

Modugno AC, Resti AG, Mazzone G, Moretti C, Terreni MR, Albanese G, Savino G, Grimaldi G, Collin R.

Eye (Lond). 2018 Dec;32(12):1803-1810. doi: 10.1038/s41433-018-0179-z. Epub 2018 Jul 24.

PMID:
30042409
15.

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
16.

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.

17.

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
18.

Genetic interaction between two insulin-dependent diabetes susceptibility loci, Idd2 and Idd13, in determining immunoregulatory DN T cell proportion.

Collin R, Doyon K, Mullins-Dansereau V, Karam M, Chabot-Roy G, Hillhouse EE, Orthwein A, Lesage S.

Immunogenetics. 2018 Aug;70(8):495-509. doi: 10.1007/s00251-018-1060-8. Epub 2018 Apr 25.

PMID:
29696366
19.

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.

20.

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.

21.

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.

22.

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.

23.

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A.

J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31.

PMID:
29391254
24.

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):.

25.

Correction: Widespread local chronic stressors in Caribbean coastal habitats.

Chollett I, Collin R, Bastidas C, Cróquer A, Gayle PMH, Jordán-Dahlgren E, Koltes K, Oxenford H, Rodriguez-Ramirez A, Weil E, Alemu J, Bone D, Buchan KC, Ford MC, Escalante-Mancera E, Garzón-Ferreira J, Guzmán HM, Kjerfve B, Klein E, McCoy C, Potts AC, Ruíz-Rentería F, Smith SR, Tschirky J, Cortés J.

PLoS One. 2018 Jan 25;13(1):e0192016. doi: 10.1371/journal.pone.0192016. eCollection 2018.

26.

Report on the incidence of squamous cell carcinomas affecting the eyelids in England over a 15-year period (2000-2014).

Wawrzynski J, Tudge I, Fitzgerald E, Collin R, Desai P, Emeriewen K, Saleh GM.

Br J Ophthalmol. 2018 Oct;102(10):1358-1361. doi: 10.1136/bjophthalmol-2017-310956. Epub 2018 Jan 23.

PMID:
29363533
27.

Widespread local chronic stressors in Caribbean coastal habitats.

Chollett I, Collin R, Bastidas C, Cróquer A, Gayle PMH, Jordán-Dahlgren E, Koltes K, Oxenford H, Rodriguez-Ramirez A, Weil E, Alemu J, Bone D, Buchan KC, Creary Ford M, Escalante-Mancera E, Garzón-Ferreira J, Guzmán HM, Kjerfve B, Klein E, McCoy C, Potts AC, Ruíz-Rentería F, Smith SR, Tschirky J, Cortés J.

PLoS One. 2017 Dec 20;12(12):e0188564. doi: 10.1371/journal.pone.0188564. eCollection 2017. Erratum in: PLoS One. 2018 Jan 25;13(1):e0192016.

28.

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
29.

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.

30.

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
31.

Citrate versus non-citrate anticoagulation in continuous renal replacement therapy: Results following a change in local critical care protocol.

Chowdhury SR, Lawton T, Akram A, Collin R, Beck J.

J Intensive Care Soc. 2017 Feb;18(1):47-51. doi: 10.1177/1751143716676820. Epub 2016 Nov 1.

32.

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.

33.

Punctal Ectropion repair using the Raus-Garito clamp.

Raus PPM, Bral N, Collin R.

Orbit. 2018 Feb;37(1):15-20. doi: 10.1080/01676830.2017.1353112. Epub 2017 Aug 30.

PMID:
28853961
34.

Reproductive cycles in tropical intertidal gastropods are timed around tidal amplitude cycles.

Collin R, Kerr K, Contolini G, Ochoa I.

Ecol Evol. 2017 Jun 23;7(15):5977-5991. doi: 10.1002/ece3.3166. eCollection 2017 Aug.

35.

An Unbiased Linkage Approach Reveals That the p53 Pathway Is Coupled to NK Cell Maturation.

Collin R, St-Pierre C, Guilbault L, Mullins-Dansereau V, Policheni A, Guimont-Desrochers F, Pelletier AN, Gray DH, Drobetsky E, Perreault C, Hillhouse EE, Lesage S.

J Immunol. 2017 Aug 15;199(4):1490-1504. doi: 10.4049/jimmunol.1600789. Epub 2017 Jul 14.

36.

Intraoperative Mitomycin C in the Treatment of Recalcitrant Ankyloblepharon.

Vahdani K, Mcveigh K, Tavassoli S, Garrott H, Ford R, Collin R.

Ophthalmic Plast Reconstr Surg. 2017 Jul/Aug;33(4):312-313. doi: 10.1097/IOP.0000000000000915. No abstract available.

PMID:
28691991
37.

Early Activation of MAPK and Apoptosis in Nutritive Embryos of Calyptraeid Gastropods.

Lesoway MP, Collin R, Abouheif E.

J Exp Zool B Mol Dev Evol. 2017 Jul;328(5):449-461. doi: 10.1002/jez.b.22745.

PMID:
28656657
38.

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C.

Am J Hum Genet. 2017 Jun 1;100(6):960-968. doi: 10.1016/j.ajhg.2017.05.001.

39.

An orthologous non-MHC locus in rats and mice is linked to CD4+ and CD8+ T-cell proportion.

Franckaert D, Collin R, Dooley J, Wallis RH, Poussier P, Liston A, Hillhouse EE, Lesage S.

Genes Immun. 2017 Sep;18(3):118-126. doi: 10.1038/gene.2017.9. Epub 2017 May 25.

PMID:
28539651
40.

Genes Outside the Major Histocompatibility Complex Locus Are Linked to the Development of Thyroid Autoantibodies and Thyroiditis in NOD.H2h4 Mice.

McLachlan SM, Lesage S, Collin R, Banuelos B, Aliesky HA, Rapoport B.

Endocrinology. 2017 Apr 1;158(4):702-713. doi: 10.1210/en.2016-1875.

41.

Tropical dead zones and mass mortalities on coral reefs.

Altieri AH, Harrison SB, Seemann J, Collin R, Diaz RJ, Knowlton N.

Proc Natl Acad Sci U S A. 2017 Apr 4;114(14):3660-3665. doi: 10.1073/pnas.1621517114. Epub 2017 Mar 20.

42.

TaxaGloss - A Glossary and Translation Tool for Biodiversity Studies.

Collin R, Fredericq S, Freshwater DW, Gilbert E, Madrid M, Maslakova S, Miglietta MP, Rocha RM, Rodríguez E, Thacker RW.

Biodivers Data J. 2016 Dec 21;(4):e10732. doi: 10.3897/BDJ.4.e10732. eCollection 2016.

43.

Applications of antisense oligonucleotides for the treatment of inherited retinal diseases.

Collin RW, Garanto A.

Curr Opin Ophthalmol. 2017 May;28(3):260-266. doi: 10.1097/ICU.0000000000000363. Review.

PMID:
28151748
44.

High-level intrathymic thyrotrophin receptor expression in thyroiditis-prone mice protects against the spontaneous generation of pathogenic thyrotrophin receptor autoantibodies.

McLachlan SM, Aliesky HA, Banuelos B, Lesage S, Collin R, Rapoport B.

Clin Exp Immunol. 2017 May;188(2):243-253. doi: 10.1111/cei.12928. Epub 2017 Feb 20.

45.

Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.

Collin RW.

Stem Cell Investig. 2016 Nov 4;3:72. eCollection 2016. No abstract available.

46.

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Astuti GD, Arno G, Hull S, Pierrache L, Venselaar H, Carss K, Raymond FL, Collin RW, Faradz SM, van den Born LI, Webster AR, Cremers FP.

Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6180-6187. doi: 10.1167/iovs.16-20148.

PMID:
27842159
47.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E.

Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89.

48.

[Survey of 319 women satisfaction using abortion in centers of Pays de la Loire in France].

Branger B, David P, Bonnet B, Coutin AS, Collin R; Les professionnels des centres d’IVG du réseau de périnatalité des Pays de la Loire.

J Gynecol Obstet Biol Reprod (Paris). 2016 Oct;45(8):955-962. doi: 10.1016/j.jgyn.2016.04.004. Epub 2016 Jun 8. French.

49.

[Clinical audit of screening for gestational diabetes among 848 pregnant women in 23 maternity units of the Pays de la Loire, 2014].

Branger B, Velupillai C, François S, Coutin AS, Paumier A, Gillard P, Collin R, Sentilhes L, Winer N.

J Gynecol Obstet Biol Reprod (Paris). 2016 Oct;45(8):876-889. doi: 10.1016/j.jgyn.2016.02.011. Epub 2016 Apr 5. French.

50.

The sea urchin Lytechinus variegatus lives close to the upper thermal limit for early development in a tropical lagoon.

Collin R, Chan KY.

Ecol Evol. 2016 Jul 17;6(16):5623-34. doi: 10.1002/ece3.2317. eCollection 2016 Aug.

Supplemental Content

Loading ...
Support Center