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Journal Abstract Search

169 related items for PubMed ID: 32901364

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  • 3. Hearing impairment in Stickler syndrome: a systematic review.
    Acke FR, Dhooge IJ, Malfait F, De Leenheer EM.
    Orphanet J Rare Dis; 2012 Oct 30; 7():84. PubMed ID: 23110709
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  • 5. 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 Oct 30; 22():697-704. PubMed ID: 27390512
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  • 6. Hearing Loss in Stickler Syndrome: An Update.
    Acke FRE, De Leenheer EMR.
    Genes (Basel); 2022 Sep 01; 13(9):. PubMed ID: 36140739
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  • 7. 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 01; 8(9):e1354. PubMed ID: 32578940
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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 01; 8(9):e1353. PubMed ID: 32558342
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  • 9. Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.
    Bath F, Swanson D, Zavala H, Chinnadurai S, Roby BB.
    Cleft Palate Craniofac J; 2022 Aug 01; 59(8):970-975. PubMed ID: 34238052
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  • 12. 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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  • 13. 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 Aug 03; 24():560-573. PubMed ID: 30181686
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  • 18. 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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