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Journal Abstract Search

232 related items for PubMed ID: 28095098

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  • 7. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
    Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA.
    Clin Exp Ophthalmol; 2012 Jul; 40(5):476-83. PubMed ID: 22574936
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  • 8. Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
    Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q.
    Mol Vis; 2018 Jul; 24():560-573. PubMed ID: 30181686
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  • 9. Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
    Breazzano MP, Tsang SH, Tezel TH.
    Ophthalmol Retina; 2020 May; 4(5):522. PubMed ID: 32381255
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  • 10. Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
    Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS.
    Mol Genet Genomic Med; 2021 May; 9(5):e1628. PubMed ID: 33951325
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  • 11. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
    Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB.
    Invest Ophthalmol Vis Sci; 2003 Sep; 44(9):4035-43. PubMed ID: 12939326
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  • 12. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
    Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.
    Eur J Hum Genet; 2010 Aug; 18(8):872-80. PubMed ID: 20179744
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  • 13. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
    Huang L, Chen C, Wang Z, Sun L, Li S, Zhang T, Luo X, Ding X.
    Genes (Basel); 2020 Aug 03; 11(8):. PubMed ID: 32756486
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  • 14. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
    Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW.
    Clin Genet; 2019 Feb 03; 95(2):325-328. PubMed ID: 30362103
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  • 15. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
    Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.
    Am J Med Genet A; 2013 Oct 03; 161A(10):2663-5. PubMed ID: 23918474
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  • 16. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
    Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H.
    J Med Case Rep; 2017 Aug 26; 11(1):237. PubMed ID: 28841907
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  • 17. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH, De Veuster I, Smets RM.
    Bull Soc Belge Ophtalmol; 2011 Aug 26; (318):45-9. PubMed ID: 22003765
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  • 18. A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
    Bozkurt B, Güler R, Özdemir EM, Esin D, Gönül Ş.
    J Pediatr Ophthalmol Strabismus; 2024 Aug 26; 61(3):e23-e27. PubMed ID: 38788144
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  • 19. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
    Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R.
    Ann Hum Genet; 2020 Sep 26; 84(5):380-392. PubMed ID: 32427345
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  • 20. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
    Yoon JM, Jang MA, Ki CS, Kim SJ.
    Ann Lab Med; 2016 Mar 26; 36(2):166-9. PubMed ID: 26709265
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