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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

263 related items for PubMed ID: 18309337

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  • 3. 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; 31(6):E1461-71. PubMed ID: 20513134
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  • 8. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
    Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.
    Clin Genet; 2008 Mar; 73(3):262-7. PubMed ID: 18177466
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  • 9. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
    Richards AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP.
    Hum Mutat; 2006 Jul; 27(7):696-704. PubMed ID: 16752401
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  • 11. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
    Schorderet DF, Escher P.
    Hum Mutat; 2009 Nov; 30(11):1475-85. PubMed ID: 19718767
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  • 16. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH, De Veuster I, Smets RM.
    Bull Soc Belge Ophtalmol; 2011 Nov; (318):45-9. PubMed ID: 22003765
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  • 18. Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
    Richards AJ, Laidlaw M, Meredith SP, Shankar P, Poulson AV, Scott JD, Snead MP.
    Hum Mutat; 2007 Jun; 28(6):639. PubMed ID: 17437277
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  • 19. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
    Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO.
    Am J Hum Genet; 2008 Jan; 82(1):174-80. PubMed ID: 18179896
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  • 20. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
    Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB.
    Invest Ophthalmol Vis Sci; 2003 Sep; 44(9):4035-43. PubMed ID: 12939326
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