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186 related items for PubMed ID: 9719369

  • 1. Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
    Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH.
    J Med Genet; 1998 Aug; 35(8):641-5. PubMed ID: 9719369
    [Abstract] [Full Text] [Related]

  • 2. Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies.
    Felbor U, Gehrig A, Sauer CG, Marquardt A, Köhler M, Schmid M, Weber BH.
    Cytogenet Cell Genet; 1998 Aug; 81(1):12-7. PubMed ID: 9691169
    [Abstract] [Full Text] [Related]

  • 3. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.
    Griesinger IB, Sieving PA, Ayyagari R.
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):248-55. PubMed ID: 10634627
    [Abstract] [Full Text] [Related]

  • 4. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.
    Kelsell RE, Godley BF, Evans K, Tiffin PA, Gregory CY, Plant C, Moore AT, Bird AC, Hunt DM.
    Hum Mol Genet; 1995 Sep; 4(9):1653-6. PubMed ID: 8541856
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  • 5. 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; 45(1):30-5. PubMed ID: 14691150
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  • 6. Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q.
    Godley BF, Tiffin PA, Evans K, Kelsell RE, Hunt DM, Bird AC.
    Ophthalmology; 1996 Jun; 103(6):893-8. PubMed ID: 8643244
    [Abstract] [Full Text] [Related]

  • 7. Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision.
    Salido EM, Ramamurthy V.
    J Neurosci; 2020 May 13; 40(20):4059-4072. PubMed ID: 32265257
    [Abstract] [Full Text] [Related]

  • 8. 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 13; 35(6):315-24. PubMed ID: 11091913
    [Abstract] [Full Text] [Related]

  • 9. Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
    Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP.
    Ophthalmology; 2014 Dec 13; 121(12):2406-14. PubMed ID: 25085631
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  • 11. Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
    Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.
    Hum Mutat; 2019 May 13; 40(5):578-587. PubMed ID: 30710461
    [Abstract] [Full Text] [Related]

  • 12. Mutations in IMPG1 cause vitelliform macular dystrophies.
    Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP.
    Am J Hum Genet; 2013 Sep 05; 93(3):571-8. PubMed ID: 23993198
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  • 14. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.
    Small KW, Puech B, Mullen L, Yelchits S.
    Mol Vis; 1997 Jan 02; 3():1. PubMed ID: 9238090
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  • 16. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
    Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K.
    Nat Genet; 2001 Jan 02; 27(1):89-93. PubMed ID: 11138005
    [Abstract] [Full Text] [Related]

  • 17. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
    Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G.
    J Med Genet; 2021 Aug 02; 58(8):570-578. PubMed ID: 32817297
    [Abstract] [Full Text] [Related]

  • 18. Autosomal dominant Stargardt-like macular dystrophy.
    Donoso LA, Edwards AO, Frost A, Vrabec T, Stone EM, Hageman GS, Perski T.
    Surv Ophthalmol; 2001 Aug 02; 46(2):149-63. PubMed ID: 11578648
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  • 20. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.
    Edwards AO, Donoso LA, Ritter R.
    Invest Ophthalmol Vis Sci; 2001 Oct 02; 42(11):2652-63. PubMed ID: 11581213
    [Abstract] [Full Text] [Related]

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