These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

303 related items for PubMed ID: 21421862

  • 1. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
    Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI.
    Invest Ophthalmol Vis Sci; 2011 Jul 01; 52(7):4774-9. PubMed ID: 21421862
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 179(8):1498-1506. PubMed ID: 31090205
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
    Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L.
    Am J Med Genet A; 2011 Jul 01; 155A(7):1668-72. PubMed ID: 21671392
    [Abstract] [Full Text] [Related]

  • 8. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
    Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian GenomicsUniversity of Washington Center for Mendelian Genomics, Seattle, Washington., Hudgins L.
    Am J Med Genet A; 2018 Dec 01; 176(12):2887-2891. PubMed ID: 30450842
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. 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 01; 40(5):476-83. PubMed ID: 22574936
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
    Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P.
    Am J Med Genet A; 2014 Jan 01; 164A(1):42-7. PubMed ID: 24273071
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
    Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
    Orphanet J Rare Dis; 2022 Mar 03; 17(1):97. PubMed ID: 35241111
    [Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 16.