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Items: 1 to 20 of 216

1.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM.

Hum Mutat. 2019 Jun 18. doi: 10.1002/humu.23787. [Epub ahead of print]

PMID:
31212395
2.

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.

Sci Transl Med. 2019 May 15;11(492). pii: eaav4523. doi: 10.1126/scitranslmed.aav4523.

PMID:
31092694
3.

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Verbakel SK, Fadaie Z, Klevering BJ, van Genderen MM, Feenstra I, Cremers FPM, Hoyng CB, Roosing S.

Mol Genet Genomic Med. 2019 Jun;7(6):e660. doi: 10.1002/mgg3.660. Epub 2019 Apr 4.

4.

The absence of fundus abnormalities in Stargardt disease.

Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB.

Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1147-1157. doi: 10.1007/s00417-019-04280-8. Epub 2019 Mar 22.

PMID:
30903310
5.

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M.

Mol Vis. 2019 Feb 8;25:106-117. eCollection 2019.

6.

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
7.

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
8.

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N, Feldhaus B, Khan MI, Cremers FPM, Kohl S, Wissinger B, Zobor D.

PLoS One. 2018 Dec 21;13(12):e0205380. doi: 10.1371/journal.pone.0205380. eCollection 2018.

9.

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Cremers FPM, Cornelis SS, Runhart EH, Astuti GDN.

Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5566-5568. doi: 10.1167/iovs.18-25944. No abstract available.

PMID:
30480704
10.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A.

Parkinsonism Relat Disord. 2019 Apr;61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15. No abstract available.

PMID:
30343981
11.

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

Khan M, Fadaie Z, Cornelis SS, Cremers FPM, Roosing S.

Methods Mol Biol. 2019;1834:3-27. doi: 10.1007/978-1-4939-8669-9_1. Review.

PMID:
30324433
12.

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
13.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF.

PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug.

14.

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S.

J Med Genet. 2018 Oct;55(10):705-712. doi: 10.1136/jmedgenet-2018-105364. Epub 2018 Aug 17.

PMID:
30120214
15.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.

PMID:
30105367
16.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM.

Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881.

PMID:
29971439
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.

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

Song JY, Aravand P, Nikonov S, Leo L, Lyubarsky A, Bennicelli JL, Pan J, Wei Z, Shpylchak I, Herrera P, Bennett DJ, Commins N, Maguire AM, Pham J, den Hollander AI, Cremers FPM, Koenekoop RK, Roepman R, Nishina P, Zhou S, Pan W, Ying GS, Aleman TS, de Melo J, McNamara I, Sun J, Mills J, Bennett J.

Mol Ther. 2018 Jun 6;26(6):1581-1593. doi: 10.1016/j.ymthe.2018.03.015. Epub 2018 Mar 21.

19.

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

Cremers FPM, Boon CJF, Bujakowska K, Zeitz C.

Genes (Basel). 2018 Apr 16;9(4). pii: E215. doi: 10.3390/genes9040215.

20.

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.

Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF.

Retina. 2019 Jun;39(6):1186-1199. doi: 10.1097/IAE.0000000000002125.

PMID:
29528978

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