223 related articles for article (PubMed ID: 33129279)
1. Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
Hu FY; Gao FJ; Li JK; Xu P; Wang DD; Zhang SH; Wu JH
BMC Med Genet; 2020 Oct; 21(1):213. PubMed ID: 33129279
[TBL] [Abstract][Full Text] [Related]
2. Novel variants associated with Stargardt disease in Chinese patients.
Hu F; Gao F; Li J; Xu P; Wang D; Chen F; Zhang S; Wu J
Gene; 2020 Sep; 754():144890. PubMed ID: 32534057
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.
Qu LH; Jin X; Zeng C; Zhou NG; Liu YH; Lin Y
Biosci Rep; 2021 Jun; 41(6):. PubMed ID: 33988224
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Green JS; O'Rielly DD; Pater JA; Houston J; Rajabi H; Galutira D; Benteau T; Sheaves A; Abdelfatah N; Bautista D; Whelan J; Young TL
Eur J Hum Genet; 2020 Jul; 28(7):925-937. PubMed ID: 32467599
[TBL] [Abstract][Full Text] [Related]
9. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Del Pozo-Valero M; Riveiro-Alvarez R; Blanco-Kelly F; Aguirre-Lamban J; Martin-Merida I; Iancu IF; Swafiri S; Lorda-Sanchez I; Rodriguez-Pinilla E; Trujillo-Tiebas MJ; Jimenez-Rolando B; Carreño E; Mahillo-Fernandez I; Rivolta C; Corton M; Avila-Fernandez A; Garcia-Sandoval B; Ayuso C
Am J Ophthalmol; 2020 Nov; 219():195-204. PubMed ID: 32619608
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13.
Hu FY; Li JK; Gao FJ; Qi YH; Xu P; Zhang YJ; Wang DD; Wang LS; Li W; Wang M; Chen F; Shen SM; Xu GZ; Zhang SH; Chang Q; Wu JH
Front Genet; 2019; 10():773. PubMed ID: 31543898
[No Abstract] [Full Text] [Related]
14. 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]
15. 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. PubMed ID: 30643219
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M; Blanco-Garavito R; Molday LL; Dhaenens CM; Souied EE; Platenburg G; Swildens J; Molday RS; Cremers FPM
J Transl Med; 2023 Aug; 21(1):546. PubMed ID: 37587475
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Whelan L; Dockery A; Stephenson KAJ; Zhu J; Kopčić E; Post IJM; Khan M; Corradi Z; Wynne N; O' Byrne JJ; Duignan E; Silvestri G; Roosing S; Cremers FPM; Keegan DJ; Kenna PF; Farrar GJ
Sci Rep; 2023 Jun; 13(1):9380. PubMed ID: 37296172
[TBL] [Abstract][Full Text] [Related]
20. Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D; Thompson JA; Charng J; Chelva E; McLenachan S; Chen SC; Zhang D; McLaren TL; Lamey TM; Constable IJ; De Roach JN; Aung-Htut MT; Adams A; Fletcher S; Wilton SD; Chen FK
Mol Genet Genomic Med; 2020 Jul; 8(7):e1259. PubMed ID: 32627976
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]