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Journal Abstract Search

265 related items for PubMed ID: 33951325

  • 1. 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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  • 2. 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 May; 22():697-704. PubMed ID: 27390512
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  • 3. 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 May; 24():560-573. PubMed ID: 30181686
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  • 4. 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; 9(10):e1781. PubMed ID: 34405586
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  • 7. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
    Kjellström U, Martell S, Brobeck C, Andréasson S.
    Ophthalmic Genet; 2021 Apr; 42(2):161-169. PubMed ID: 33356723
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  • 8. 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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  • 9. 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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  • 11. 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 03; 9(3):e1620. PubMed ID: 33570243
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  • 13. 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 03; 8(9):e1354. PubMed ID: 32578940
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  • 14. 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 03; 45(3):313-318. PubMed ID: 38299479
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  • 15. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
    Boysen KB, La Cour M, Kessel L.
    Ophthalmic Genet; 2020 Jun 03; 41(3):223-234. PubMed ID: 32316871
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  • 16. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH, De Veuster I, Smets RM.
    Bull Soc Belge Ophtalmol; 2011 Jun 03; (318):45-9. PubMed ID: 22003765
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  • 17. Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
    Choi SI, Woo SJ, Oh BL, Han J, Lim HT, Lee BJ, Joo K, Park JY, Jang JH, So MK, Kim SJ.
    Genes (Basel); 2021 Oct 05; 12(10):. PubMed ID: 34680973
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  • 18. 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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  • 19. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
    Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian GenomicsUniversity of Washington Center for Mendelian Genomics, Seattle, Washington., Hudgins L.
    Am J Med Genet A; 2018 Dec 01; 176(12):2887-2891. PubMed ID: 30450842
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  • 20. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.
    Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ.
    Eye (Lond); 2011 Nov 01; 25(11):1389-400. PubMed ID: 21921955
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