These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

590 related items for PubMed ID: 33261146

  • 1. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
    Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC.
    Genes (Basel); 2020 Nov 27; 11(12):. PubMed ID: 33261146
    [Abstract] [Full Text] [Related]

  • 2. 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 27; 202():108389. PubMed ID: 33301772
    [Abstract] [Full Text] [Related]

  • 3. 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 27; 219():195-204. PubMed ID: 32619608
    [Abstract] [Full Text] [Related]

  • 4. Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
    Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R.
    Acta Ophthalmol; 2021 Aug 27; 99(5):e733-e746. PubMed ID: 33258285
    [Abstract] [Full Text] [Related]

  • 5. Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
    Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C.
    Ophthalmology; 2013 Nov 27; 120(11):2332-7. PubMed ID: 23755871
    [Abstract] [Full Text] [Related]

  • 6. Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
    Schroeder M, Kjellström U.
    Mol Vis; 2018 Nov 27; 24():1-16. PubMed ID: 29386879
    [Abstract] [Full Text] [Related]

  • 7. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
    Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I.
    Int J Mol Sci; 2019 Sep 30; 20(19):. PubMed ID: 31574917
    [Abstract] [Full Text] [Related]

  • 8. Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
    Joo K, Seong MW, Park KH, Park SS, Woo SJ.
    Mol Vis; 2019 Sep 30; 25():679-690. PubMed ID: 31814693
    [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 01; 57(1):145-52. PubMed ID: 26780318
    [Abstract] [Full Text] [Related]

  • 10. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
    Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB.
    Graefes Arch Clin Exp Ophthalmol; 2005 Feb 01; 243(2):90-100. PubMed ID: 15614537
    [Abstract] [Full Text] [Related]

  • 11. Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
    Liu X, Meng X, Yang L, Long Y, Fujinami-Yokokawa Y, Ren J, Kurihara T, Tsubota K, Tsunoda K, Fujinami K, Li S, East Asia Inherited Retinal Disease Society Study Group.
    Am J Med Genet C Semin Med Genet; 2020 Sep 01; 184(3):694-707. PubMed ID: 32845068
    [Abstract] [Full Text] [Related]

  • 12. Foveal sparing in Stargardt disease.
    van Huet RA, Bax NM, Westeneng-Van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB.
    Invest Ophthalmol Vis Sci; 2014 Oct 16; 55(11):7467-78. PubMed ID: 25324290
    [Abstract] [Full Text] [Related]

  • 13. 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 16; 119(6):1199-210. PubMed ID: 22449572
    [Abstract] [Full Text] [Related]

  • 14. A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
    Wolock CJ, Stong N, Ma CJ, Nagasaki T, Lee W, Tsang SH, Kamalakaran S, Goldstein DB, Allikmets R.
    Genet Med; 2019 Oct 16; 21(10):2336-2344. PubMed ID: 30926958
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 41(6):. PubMed ID: 33988224
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 36(1):43-7. PubMed ID: 25363634
    [Abstract] [Full Text] [Related]

  • 17. Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
    Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q.
    Invest Ophthalmol Vis Sci; 2022 May 02; 63(5):28. PubMed ID: 35608843
    [Abstract] [Full Text] [Related]

  • 18. Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
    Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP.
    Ophthalmol Retina; 2024 May 02; 8(5):509-519. PubMed ID: 37924945
    [Abstract] [Full Text] [Related]

  • 19. Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
    Xiao X, Ye L, Chen C, Zheng H, Yuan J.
    Curr Gene Ther; 2022 May 02; 22(4):342-351. PubMed ID: 35170407
    [Abstract] [Full Text] [Related]

  • 20. Peripheral pigmented lesions in ABCA4-associated retinopathy.
    Al-Ani HH, Sheck L, Vincent AL.
    Ophthalmic Genet; 2021 Aug 02; 42(4):383-391. PubMed ID: 33706644
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 30.