BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 32627976)

  • 1. 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]  

  • 2. Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
    Huang D; Thompson JA; Chen SC; Adams A; Pitout I; Lima A; Zhang D; Jeffery RCH; Attia MS; McLaren TL; Lamey TM; De Roach JN; McLenachan S; Aung-Htut MT; Fletcher S; Wilton SD; Chen FK
    Exp Eye Res; 2022 Dec; 225():109276. PubMed ID: 36209838
    [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. 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]  

  • 5. Molecular Analysis of the
    Ścieżyńska A; Soszyńska M; Komorowski M; Podgórska A; Krześniak N; Nogowska A; Smolińska M; Szulborski K; Szaflik JP; Noszczyk B; Ołdak M; Malejczyk J
    Int J Mol Sci; 2020 May; 21(10):. PubMed ID: 32413971
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
    Corradi Z; Salameh M; Khan M; Héon E; Mishra K; Hitti-Malin RJ; AlSwaiti Y; Aslanian A; Banin E; Brooks BP; Zein WM; Hufnagel RB; Roosing S; Dhaenens CM; Sharon D; Cremers FPM; AlTalbishi A
    Invest Ophthalmol Vis Sci; 2022 Apr; 63(4):20. PubMed ID: 35475888
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
    Sangermano R; Bax NM; Bauwens M; van den Born LI; De Baere E; Garanto A; Collin RW; Goercharn-Ramlal AS; den Engelsman-van Dijk AH; Rohrschneider K; Hoyng CB; Cremers FP; Albert S
    Ophthalmology; 2016 Jun; 123(6):1375-85. PubMed ID: 26976702
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
    Aukrust I; Jansson RW; Bredrup C; Rusaas HE; Berland S; Jørgensen A; Haug MG; Rødahl E; Houge G; Knappskog PM
    Acta Ophthalmol; 2017 May; 95(3):240-246. PubMed ID: 27775217
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.
    Sun Z; Yang L; Li H; Zou X; Wang L; Wu S; Zhu T; Wei X; Zhong Y; Sui R
    Exp Eye Res; 2021 Jan; 202():108389. PubMed ID: 33301772
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Protein modeling and in silico analysis to assess pathogenicity of
    Cevik S; Wangtiraumnuay N; Van Schelvergem K; Tsukikawa M; Capasso J; Biswas SB; Bodt B; Levin AV; Biswas-Fiss E
    Mol Vis; 2023; 29():217-233. PubMed ID: 38222458
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort.
    Tian L; Chen CJ; Song YN; Xu K; Li NE; Zhang XH; Xie Y; Jin ZB; Li Y
    Gene; 2024 Jan; 891():147832. PubMed ID: 37774808
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. ABCA4 gene screening by next-generation sequencing in a British cohort.
    Fujinami K; Zernant J; Chana RK; Wright GA; Tsunoda K; Ozawa Y; Tsubota K; Webster AR; Moore AT; Allikmets R; Michaelides M
    Invest Ophthalmol Vis Sci; 2013 Oct; 54(10):6662-74. PubMed ID: 23982839
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Variants in the
    Salles MV; Motta FL; Martin R; Filippelli-Silva R; Dias da Silva E; Varela P; Costa KA; Chiang JP; Pesquero JB; Sallum JF
    Mol Vis; 2018; 24():546-559. PubMed ID: 30093795
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.