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Journal Abstract Search

220 related items for PubMed ID: 34680973

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  • 4. Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
    Nixon T, Richards AJ, Lomas A, Abbs S, Vasudevan P, McNinch A, Alexander P, Snead MP.
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1354. PubMed ID: 32578940
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  • 7. Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
    Brizola E, Gnoli M, Tremosini M, Nucci P, Bargiacchi S, La Barbera A, Giglio S, Sangiorgi L.
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1353. PubMed ID: 32558342
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  • 8. 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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  • 9. Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
    Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH.
    BMC Med Genet; 2020 Feb 10; 21(1):27. PubMed ID: 32039712
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  • 11. 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 Feb 10; 24():560-573. PubMed ID: 30181686
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  • 14. 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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  • 15. Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
    Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP.
    Am J Med Genet A; 2019 Aug 26; 179(8):1498-1506. PubMed ID: 31090205
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  • 16. Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.
    Acke FR, Dhooge IJ, Malfait F, De Leenheer EM, De Pauw GA.
    J Craniomaxillofac Surg; 2016 Jul 26; 44(7):848-53. PubMed ID: 27193475
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  • 17. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
    Boysen KB, La Cour M, Kessel L.
    Ophthalmic Genet; 2020 Jun 26; 41(3):223-234. PubMed ID: 32316871
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  • 18. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
    Kjellström U, Martell S, Brobeck C, Andréasson S.
    Ophthalmic Genet; 2021 Apr 26; 42(2):161-169. PubMed ID: 33356723
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  • 19. 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 26; 18(8):872-80. PubMed ID: 20179744
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  • 20. Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
    Boysen KB, Tümer Z, Bach-Holm D, Bisgaard AM, Kessel L.
    Ophthalmic Genet; 2024 Jun 26; 45(3):313-318. PubMed ID: 38299479
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