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Journal Abstract Search

425 related items for PubMed ID: 30181686

  • 1. 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; 24():560-573. PubMed ID: 30181686
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 40(3):281-288. PubMed ID: 32196734
    [Abstract] [Full Text] [Related]

  • 4. 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; 84(5):380-392. PubMed ID: 32427345
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 03; 9(5):e1628. PubMed ID: 33951325
    [Abstract] [Full Text] [Related]

  • 7. 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]

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  • 9. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
    Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA.
    Clin Exp Ophthalmol; 2012 Jul 03; 40(5):476-83. PubMed ID: 22574936
    [Abstract] [Full Text] [Related]

  • 10. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH, De Veuster I, Smets RM.
    Bull Soc Belge Ophtalmol; 2011 Jul 03; (318):45-9. PubMed ID: 22003765
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 03; 8(9):e1353. PubMed ID: 32558342
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 179(8):1498-1506. PubMed ID: 31090205
    [Abstract] [Full Text] [Related]

  • 15. 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 05; 18(8):872-80. PubMed ID: 20179744
    [Abstract] [Full Text] [Related]

  • 16. Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
    Breazzano MP, Tsang SH, Tezel TH.
    Ophthalmol Retina; 2020 May 05; 4(5):522. PubMed ID: 32381255
    [No Abstract] [Full Text] [Related]

  • 17. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
    Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP.
    Hum Mutat; 2010 Jun 05; 31(6):E1461-71. PubMed ID: 20513134
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 95(2):325-328. PubMed ID: 30362103
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 8(9):e1354. PubMed ID: 32578940
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