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Journal Abstract Search

231 related items for PubMed ID: 34405586

  • 1. 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
    [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]

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  • 4. 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 26; 9(5):e1628. PubMed ID: 33951325
    [Abstract] [Full Text] [Related]

  • 5. 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 26; 24():560-573. PubMed ID: 30181686
    [Abstract] [Full Text] [Related]

  • 6. A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
    Sun W, Xiao X, Li S, Jia X, Zhang Q.
    Ophthalmic Physiol Opt; 2020 May 26; 40(3):281-288. PubMed ID: 32196734
    [Abstract] [Full Text] [Related]

  • 7. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH, De Veuster I, Smets RM.
    Bull Soc Belge Ophtalmol; 2011 May 26; (318):45-9. PubMed ID: 22003765
    [Abstract] [Full Text] [Related]

  • 8. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
    Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW.
    Clin Genet; 2019 Feb 26; 95(2):325-328. PubMed ID: 30362103
    [Abstract] [Full Text] [Related]

  • 9. 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 26; 179(8):1498-1506. PubMed ID: 31090205
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 84(5):380-392. PubMed ID: 32427345
    [Abstract] [Full Text] [Related]

  • 11. Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.
    Suemori S, Sawada A, Shiraki I, Mochizuki K.
    Semin Ophthalmol; 2014 Jan 26; 29(1):45-7. PubMed ID: 24164106
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
    Kjellström U, Martell S, Brobeck C, Andréasson S.
    Ophthalmic Genet; 2021 Apr 26; 42(2):161-169. PubMed ID: 33356723
    [Abstract] [Full Text] [Related]

  • 13. 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 26; 18(8):872-80. PubMed ID: 20179744
    [Abstract] [Full Text] [Related]

  • 14. Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
    Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL.
    Ophthalmic Genet; 2017 Aug 26; 38(1):43-50. PubMed ID: 28095098
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
    Bozkurt B, Güler R, Özdemir EM, Esin D, Gönül Ş.
    J Pediatr Ophthalmol Strabismus; 2024 Aug 03; 61(3):e23-e27. PubMed ID: 38788144
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
    Breazzano MP, Tsang SH, Tezel TH.
    Ophthalmol Retina; 2020 May 03; 4(5):522. PubMed ID: 32381255
    [No Abstract] [Full Text] [Related]

  • 20. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
    Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.
    J Med Genet; 2019 Sep 03; 56(9):629-638. PubMed ID: 31129566
    [Abstract] [Full Text] [Related]

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