BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 18309337)

  • 1. Clinical features of the congenital vitreoretinopathies.
    Edwards AO
    Eye (Lond); 2008 Oct; 22(10):1233-42. PubMed ID: 18309337
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Snowflake vitreoretinal degeneration: follow-up of the original family.
    Lee MM; Ritter R; Hirose T; Vu CD; Edwards AO
    Ophthalmology; 2003 Dec; 110(12):2418-26. PubMed ID: 14644728
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
    Vu CD; Brown J; Körkkö J; Ritter R; Edwards AO
    Ophthalmology; 2003 Jan; 110(1):70-7. PubMed ID: 12511349
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
    Jiao X; Ritter R; Hejtmancik JF; Edwards AO
    Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4498-503. PubMed ID: 15557460
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.
    Parentin F; Sangalli A; Mottes M; Perissutti P
    Graefes Arch Clin Exp Ophthalmol; 2001 Apr; 239(4):316-9. PubMed ID: 11450497
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.
    Sarra GM; Weigell-Weber M; Kotzot D; Niemeyer G; Messmer E; Hergersberg M
    Arch Ophthalmol; 2003 Aug; 121(8):1109-16. PubMed ID: 12912687
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Vitreoretinal changes in siblings of two patients with Stickler syndrome. Study of two families].
    Langmann A; Langmann G; Kainer U; Faulborn J
    Ophthalmologe; 1993 Oct; 90(5):506-9. PubMed ID: 8219641
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hereditary vitreopathy.
    Snead MP
    Eye (Lond); 1996; 10 ( Pt 6)():653-63. PubMed ID: 9091360
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
    Perveen R; Hart-Holden N; Dixon MJ; Wiszniewski W; Fryer AE; Brunner HG; Pinkners AJ; van Beersum SE; Black GC
    Genomics; 1999 Apr; 57(2):219-26. PubMed ID: 10198161
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
    Richards AJ; Meredith S; Poulson A; Bearcroft P; Crossland G; Baguley DM; Scott JD; Snead MP
    Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):663-8. PubMed ID: 15671297
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Retinal detachment and prophylaxis in type 1 Stickler syndrome.
    Ang A; Poulson AV; Goodburn SF; Richards AJ; Scott JD; Snead MP
    Ophthalmology; 2008 Jan; 115(1):164-8. PubMed ID: 17675240
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Lattice degeneration of the retina and retinal detachment.
    Semes LP
    Optom Clin; 1992; 2(3):71-91. PubMed ID: 1463916
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.