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Journal Abstract Search

303 related items for PubMed ID: 21421862

  • 1. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
    Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI.
    Invest Ophthalmol Vis Sci; 2011 Jul 01; 52(7):4774-9. PubMed ID: 21421862
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  • 2. 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 01; 179(8):1498-1506. PubMed ID: 31090205
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  • 3. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
    Kjellström U, Martell S, Brobeck C, Andréasson S.
    Ophthalmic Genet; 2021 Apr 01; 42(2):161-169. PubMed ID: 33356723
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  • 4. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
    Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S.
    Am J Hum Genet; 2006 Sep 01; 79(3):449-57. PubMed ID: 16909383
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  • 5. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH, De Veuster I, Smets RM.
    Bull Soc Belge Ophtalmol; 2011 Sep 01; (318):45-9. PubMed ID: 22003765
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  • 9. 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 01; 9(5):e1628. PubMed ID: 33951325
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  • 10. Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
    Wu H, Che S, Li S, Cheng Y, Xiao J, Liu Z.
    Mol Genet Genomic Med; 2021 Oct 01; 9(10):e1781. PubMed ID: 34405586
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  • 12. Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
    Markova T, Sparber P, Borovikov A, Nagornova T, Dadali E.
    Mol Genet Genomic Med; 2021 Mar 01; 9(3):e1620. PubMed ID: 33570243
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  • 13. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
    Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X.
    Mol Vis; 2016 Mar 01; 22():697-704. PubMed ID: 27390512
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  • 14. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
    Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P.
    Am J Med Genet A; 2014 Jan 01; 164A(1):42-7. PubMed ID: 24273071
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  • 15. 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 Jan 01; 24():560-573. PubMed ID: 30181686
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  • 19. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
    Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
    Orphanet J Rare Dis; 2022 Mar 03; 17(1):97. PubMed ID: 35241111
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