BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 29971439)

  • 1. 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]  

  • 2. 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]  

  • 3. Clinical and genetic characteristics of late-onset Stargardt's disease.
    Westeneng-van Haaften SC; Boon CJ; Cremers FP; Hoefsloot LH; den Hollander AI; Hoyng CB
    Ophthalmology; 2012 Jun; 119(6):1199-210. PubMed ID: 22449572
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 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. Asymmetric Inter-Eye Progression in Stargardt Disease.
    Lambertus S; Bax NM; Groenewoud JM; Cremers FP; van der Wilt GJ; Klevering BJ; Theelen T; Hoyng CB
    Invest Ophthalmol Vis Sci; 2016 Dec; 57(15):6824-6830. PubMed ID: 28002570
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
    Li CHZ; Pas JAAH; Corradi Z; Hitti-Malin RJ; Hoogstede A; Runhart EH; Dhooge PPA; Collin RWJ; Cremers FPM; Hoyng CB
    Ophthalmology; 2024 Jan; 131(1):87-97. PubMed ID: 37598860
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.
    Salles MV; Motta FL; Dias da Silva E; Varela P; Costa KA; Filippelli-Silva R; Martin RP; Chiang JP; Pesquero JB; Sallum JMF
    Invest Ophthalmol Vis Sci; 2017 Nov; 58(13):5723-5730. PubMed ID: 29114839
    [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. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Clinical and molecular characteristics of childhood-onset Stargardt disease.
    Fujinami K; Zernant J; Chana RK; Wright GA; Tsunoda K; Ozawa Y; Tsubota K; Robson AG; Holder GE; Allikmets R; Michaelides M; Moore AT
    Ophthalmology; 2015 Feb; 122(2):326-34. PubMed ID: 25312043
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
    Zernant J; Lee W; Wang J; Goetz K; Ullah E; Nagasaki T; Su PY; Fishman GA; Tsang SH; Tumminia SJ; Brooks BP; Hufnagel RB; Chen R; Allikmets R
    PLoS Genet; 2022 Mar; 18(3):e1010129. PubMed ID: 35353811
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.