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156 related items for PubMed ID: 8817347

  • 1. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
    Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, Cox N, Bird AC, Bhattacharya SS.
    Hum Mol Genet; 1996 Jul; 5(7):1055-9. PubMed ID: 8817347
    [Abstract] [Full Text] [Related]

  • 2. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.
    Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM.
    Arch Ophthalmol; 1996 Feb; 114(2):193-8. PubMed ID: 8573024
    [Abstract] [Full Text] [Related]

  • 3. Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).
    Kermani S, Gregory-Evans K, Tarttelin EE, Bellingham J, Plant C, Bird AC, Fox M, Bhattacharya SS, Gregory-Evans CY.
    Hum Genet; 1999 Jan; 104(1):77-82. PubMed ID: 10071196
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  • 4. Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy.
    Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C, Bird AC.
    Arch Ophthalmol; 1997 Jul; 115(7):904-10. PubMed ID: 9230832
    [Abstract] [Full Text] [Related]

  • 5. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
    Edwards AO, Klein ML, Berselli CB, Hejtmancik JF, Rust K, Wirtz MK, Weleber RG, Acott TS.
    Am J Ophthalmol; 1998 Sep; 126(3):417-24. PubMed ID: 9744375
    [Abstract] [Full Text] [Related]

  • 6. A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.
    Yang Z, Kitsos G, Tong Z, Payne M, Gorezis S, Psilas K, Grigoriadou M, Zhao Y, Kamaya S, Aperis G, Petersen MB, Zhang K.
    J Med Genet; 2006 Dec; 43(12):e57. PubMed ID: 17142619
    [Abstract] [Full Text] [Related]

  • 7. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.
    Kniazeva M, Chiang MF, Morgan B, Anduze AL, Zack DJ, Han M, Zhang K.
    Am J Hum Genet; 1999 May; 64(5):1394-9. PubMed ID: 10205271
    [Abstract] [Full Text] [Related]

  • 8. An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
    Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT.
    Invest Ophthalmol Vis Sci; 2003 May; 44(5):2178-83. PubMed ID: 12714659
    [Abstract] [Full Text] [Related]

  • 9. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.
    Kremer H, Pinckers A, van den Helm B, Deutman AF, Ropers HH, Mariman EC.
    Hum Mol Genet; 1994 Feb; 3(2):299-302. PubMed ID: 8004098
    [Abstract] [Full Text] [Related]

  • 10. Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes.
    Kirschner LS, Taymans SE, Pack S, Pak E, Pike BL, Chandrasekharappa SC, Zhuang Z, Stratakis CA.
    Genomics; 1999 Nov 15; 62(1):21-33. PubMed ID: 10585764
    [Abstract] [Full Text] [Related]

  • 11. A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
    Kniazeva M, Traboulsi EI, Yu Z, Stefko ST, Gorin MB, Shugart YY, O'Connell JR, Blaschak CJ, Cutting G, Han M, Zhang K.
    Am J Ophthalmol; 2000 Aug 15; 130(2):197-202. PubMed ID: 11004294
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  • 14. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
    Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF.
    Nat Genet; 1999 Jun 15; 22(2):199-202. PubMed ID: 10369267
    [Abstract] [Full Text] [Related]

  • 15. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
    Evans JC, Frayling TM, Ellard S, Gutowski NJ.
    Hum Genet; 2000 Jun 15; 106(6):636-8. PubMed ID: 10942112
    [Abstract] [Full Text] [Related]

  • 16. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
    van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP.
    Invest Ophthalmol Vis Sci; 2004 Jan 15; 45(1):30-5. PubMed ID: 14691150
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  • 18. Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family.
    Lagali PS, MacDonald IM, Griesinger IB, Chambers ML, Ayyagari R, Wong PW.
    Can J Ophthalmol; 2000 Oct 15; 35(6):315-24. PubMed ID: 11091913
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  • 20. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
    Fontaine B, Davoine CS, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A.
    Am J Hum Genet; 2000 Feb 15; 66(2):702-7. PubMed ID: 10677329
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