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Journal Abstract Search

261 related items for PubMed ID: 32558342

  • 1. 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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  • 2. 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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  • 10. 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; 44(7):848-53. PubMed ID: 27193475
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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 Jul; 24():560-573. PubMed ID: 30181686
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  • 13. 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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  • 16. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
    Boysen KB, La Cour M, Kessel L.
    Ophthalmic Genet; 2020 Jun; 41(3):223-234. PubMed ID: 32316871
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  • 17. 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; 45(3):313-318. PubMed ID: 38299479
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  • 19. Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
    Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP.
    Eur J Hum Genet; 2019 Mar; 27(3):369-377. PubMed ID: 30568244
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