279 related articles for article (PubMed ID: 29848554)
1. Extremely hypomorphic and severe deep intronic variants in the
Zernant J; Lee W; Nagasaki T; Collison FT; Fishman GA; Bertelsen M; Rosenberg T; Gouras P; Tsang SH; Allikmets R
Cold Spring Harb Mol Case Stud; 2018 Aug; 4(4):. PubMed ID: 29848554
[TBL] [Abstract][Full Text] [Related]
2. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
Bauwens M; De Zaeytijd J; Weisschuh N; Kohl S; Meire F; Dahan K; Depasse F; De Jaegere S; De Ravel T; De Rademaeker M; Loeys B; Coppieters F; Leroy BP; De Baere E
Hum Mutat; 2015 Jan; 36(1):39-42. PubMed ID: 25346251
[TBL] [Abstract][Full Text] [Related]
3. ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
Jonsson F; Westin IM; Österman L; Sandgren O; Burstedt M; Holmberg M; Golovleva I
Acta Ophthalmol; 2018 Nov; 96(7):737-743. PubMed ID: 29461686
[TBL] [Abstract][Full Text] [Related]
4. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL; Grassmann F; Kellner U; Spital G; Rüther K; Jägle H; Hufendiek K; Rating P; Huchzermeyer C; Baier MJ; Weber BH; Stöhr H
Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):394-403. PubMed ID: 28118664
[TBL] [Abstract][Full Text] [Related]
5. Analysis of the ABCA4 genomic locus in Stargardt disease.
Zernant J; Xie YA; Ayuso C; Riveiro-Alvarez R; Lopez-Martinez MA; Simonelli F; Testa F; Gorin MB; Strom SP; Bertelsen M; Rosenberg T; Boone PM; Yuan B; Ayyagari R; Nagy PL; Tsang SH; Gouras P; Collison FT; Lupski JR; Fishman GA; Allikmets R
Hum Mol Genet; 2014 Dec; 23(25):6797-806. PubMed ID: 25082829
[TBL] [Abstract][Full Text] [Related]
6. ABCA4-Associated Stargardt Disease.
Khan M; Cremers FPM
Klin Monbl Augenheilkd; 2020 Mar; 237(3):267-274. PubMed ID: 32016942
[TBL] [Abstract][Full Text] [Related]
7. 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; 102(4):517-527. PubMed ID: 29526278
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM; Sangermano R; Roosing S; Thiadens AA; Hoefsloot LH; van den Born LI; Phan M; Klevering BJ; Westeneng-van Haaften C; Braun TA; Zonneveld-Vrieling MN; de Wijs I; Mutlu M; Stone EM; den Hollander AI; Klaver CC; Hoyng CB; Cremers FP
Hum Mutat; 2015 Jan; 36(1):43-7. PubMed ID: 25363634
[TBL] [Abstract][Full Text] [Related]
9. 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 Oct; 40(10):1749-1759. PubMed ID: 31212395
[TBL] [Abstract][Full Text] [Related]
10. Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Runhart EH; Valkenburg D; Cornelis SS; Khan M; Sangermano R; Albert S; Bax NM; Astuti GDN; Gilissen C; Pott JR; Verheij JBGM; Blokland EAW; Cremers FPM; van den Born LI; Hoyng CB
Invest Ophthalmol Vis Sci; 2019 Oct; 60(13):4249-4256. PubMed ID: 31618761
[TBL] [Abstract][Full Text] [Related]
11. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
Lee W; Xie Y; Zernant J; Yuan B; Bearelly S; Tsang SH; Lupski JR; Allikmets R
Hum Genet; 2016 Jan; 135(1):9-19. PubMed ID: 26527198
[TBL] [Abstract][Full Text] [Related]
12. Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Lee W; Zernant J; Nagasaki T; Molday LL; Su PY; Fishman GA; Tsang SH; Molday RS; Allikmets R
Hum Mol Genet; 2021 Jun; 30(14):1293-1304. PubMed ID: 33909047
[TBL] [Abstract][Full Text] [Related]
13. 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; 59(8):3220-3231. PubMed ID: 29971439
[TBL] [Abstract][Full Text] [Related]
14. Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A.
Suárez-Herrera N; Leijsten N; Albert S; Bax NM; Hoyng CB; Cremers FPM; Garanto A; Collin RWJ
Stem Cell Res; 2023 Dec; 73():103252. PubMed ID: 37979432
[TBL] [Abstract][Full Text] [Related]
15. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J; Lee W; Collison FT; Fishman GA; Sergeev YV; Schuerch K; Sparrow JR; Tsang SH; Allikmets R
J Med Genet; 2017 Jun; 54(6):404-412. PubMed ID: 28446513
[TBL] [Abstract][Full Text] [Related]
16. Understanding and Rescuing the Splicing Defect Caused by the Frequent
Suárez-Herrera N; Garanto A; Collin RWJ
Nucleic Acid Ther; 2024 Apr; 34(2):73-82. PubMed ID: 38466963
[TBL] [Abstract][Full Text] [Related]
17. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F; Pan Z; Xu K; Tian L; Xie Y; Zhang X; Chen J; Dong B; Li Y
Invest Ophthalmol Vis Sci; 2016 Jan; 57(1):145-52. PubMed ID: 26780318
[TBL] [Abstract][Full Text] [Related]
18. Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
Garces F; Jiang K; Molday LL; Stöhr H; Weber BH; Lyons CJ; Maberley D; Molday RS
Invest Ophthalmol Vis Sci; 2018 May; 59(6):2305-2315. PubMed ID: 29847635
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of
Nassisi M; Mohand-Saïd S; Andrieu C; Antonio A; Condroyer C; Méjécase C; Varin J; Wohlschlegel J; Dhaenens CM; Sahel JA; Zeitz C; Audo I
Int J Mol Sci; 2019 Oct; 20(20):. PubMed ID: 31614660
[TBL] [Abstract][Full Text] [Related]
20. Identification of novel pathogenic
Xiang Q; Cao Y; Xu H; Guo Y; Yang Z; Xu L; Yuan L; Deng H
Biosci Rep; 2019 Jan; 39(1):. PubMed ID: 30563929
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]