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Journal Abstract Search

170 related items for PubMed ID: 34238052

  • 1. 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; 59(8):970-975. PubMed ID: 34238052
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Hearing Loss in Stickler Syndrome: An Update.
    Acke FRE, De Leenheer EMR.
    Genes (Basel); 2022 Sep 01; 13(9):. PubMed ID: 36140739
    [Abstract] [Full Text] [Related]

  • 4. 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 Sep 01; 22():697-704. PubMed ID: 27390512
    [Abstract] [Full Text] [Related]

  • 5. Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.
    Swanson D, Ba'th F, Zavala H, Chinnadurai S, Roby BB.
    Int J Pediatr Otorhinolaryngol; 2021 Jul 01; 146():110749. PubMed ID: 34004386
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 24():560-573. PubMed ID: 30181686
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. Dominant Stickler Syndrome.
    Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP.
    Genes (Basel); 2022 Jun 18; 13(6):. PubMed ID: 35741851
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
    Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R.
    Ann Hum Genet; 2020 Sep 30; 84(5):380-392. PubMed ID: 32427345
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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 03; 9(10):e1781. PubMed ID: 34405586
    [Abstract] [Full Text] [Related]

  • 14. Autosomal Recessive Stickler Syndrome.
    Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP.
    Genes (Basel); 2022 Jun 24; 13(7):. PubMed ID: 35885918
    [Abstract] [Full Text] [Related]

  • 15. 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 24; 8(9):e1354. PubMed ID: 32578940
    [Abstract] [Full Text] [Related]

  • 16. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
    Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP.
    J Med Genet; 2013 Nov 24; 50(11):765-71. PubMed ID: 23922384
    [Abstract] [Full Text] [Related]

  • 17. Osteoporosis in Stickler syndrome. A new family case with bone histology study.
    Insalaco P, Legrand E, Bouvard B, Audran M.
    Morphologie; 2017 Mar 24; 101(332):33-38. PubMed ID: 28159459
    [Abstract] [Full Text] [Related]

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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 24; 18(8):872-80. PubMed ID: 20179744
    [Abstract] [Full Text] [Related]

  • 20. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
    Boysen KB, La Cour M, Kessel L.
    Ophthalmic Genet; 2020 Jun 24; 41(3):223-234. PubMed ID: 32316871
    [Abstract] [Full Text] [Related]

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