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Journal Abstract Search

1007 related items for PubMed ID: 10366077

  • 21. Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.
    Leibu R, Jermans A, Hatim G, Miller B, Sprecher E, Perlman I.
    Ophthalmology; 2006 May; 113(5):841-7.e3. PubMed ID: 16650681
    [Abstract] [Full Text] [Related]

  • 22. Alström syndrome--a case report and literature review.
    Karska-Basta I, Kubicka-Trzaska A, Filemonowicz-Skoczek A, Romanowska-Dixon B, Kobylarz J.
    Klin Oczna; 2008 May; 110(4-6):188-92. PubMed ID: 18655459
    [Abstract] [Full Text] [Related]

  • 23. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
    Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW.
    Br J Ophthalmol; 2008 Jan; 92(1):95-102. PubMed ID: 17962389
    [Abstract] [Full Text] [Related]

  • 24. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

  • 25. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.
    Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A.
    Invest Ophthalmol Vis Sci; 2007 Jul; 48(7):3283-91. PubMed ID: 17591900
    [Abstract] [Full Text] [Related]

  • 26. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
    Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB.
    Ophthalmology; 2005 Jan; 112(1):159-66. PubMed ID: 15629837
    [Abstract] [Full Text] [Related]

  • 27. Mitochondrial 3243 BP mutation: a case report.
    Rigoli L, Caruso RA, Zuccarello D, Rigoli M, Barberi I.
    Diabetes Nutr Metab; 2001 Dec; 14(6):343-8. PubMed ID: 11853367
    [Abstract] [Full Text] [Related]

  • 28. Fundus changes in patients with the mitochondrial DNA point mutation at position 3243.
    Bonte C, Leys A, Matthijs G, Missotten L.
    Bull Soc Belge Ophtalmol; 1996 Dec; 261():9-12. PubMed ID: 9009357
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  • 30. Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.
    Olsson C, Zethelius B, Lagerström-Fermér M, Asplund J, Berne C, Landegren U.
    Hum Mutat; 1998 Dec; 12(1):52-8. PubMed ID: 9633820
    [Abstract] [Full Text] [Related]

  • 31. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.
    Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y.
    J Hum Genet; 2001 Dec; 46(6):330-4. PubMed ID: 11393536
    [Abstract] [Full Text] [Related]

  • 32. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.
    Valleix S, Nedelec B, Rigaudiere F, Dighiero P, Pouliquen Y, Renard G, Le Gargasson JF, Delpech M.
    Invest Ophthalmol Vis Sci; 2006 Jan; 47(1):48-54. PubMed ID: 16384943
    [Abstract] [Full Text] [Related]

  • 33. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
    Birch DG, Anderson JL, Fish GE.
    Ophthalmology; 1999 Feb; 106(2):258-68. PubMed ID: 9951474
    [Abstract] [Full Text] [Related]

  • 34. The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.
    Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJ.
    Am J Med Genet; 1996 Apr 24; 62(4):404-9. PubMed ID: 8723072
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  • 36. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun 24; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

  • 37. A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern.
    Hosszúfalusi N, Karcagi V, Horváth R, Palik E, Várkonyi J, Rajczy K, Prohászka Z, Szentirmai C, Karádi I, Romics L, Pánczél P.
    Diabetes Metab Res Rev; 2009 Feb 24; 25(2):127-35. PubMed ID: 19116951
    [Abstract] [Full Text] [Related]

  • 38. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
    Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR.
    Ophthalmology; 2010 Jan 24; 117(1):120-127.e1. PubMed ID: 19818506
    [Abstract] [Full Text] [Related]

  • 39. Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA.
    Maassen JA, van den Ouweland JM, t Hart LM, Lemkes HH.
    Horm Metab Res; 1997 Feb 24; 29(2):50-5. PubMed ID: 9105898
    [Abstract] [Full Text] [Related]

  • 40. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct 24; 109(10):1862-70. PubMed ID: 12359607
    [Abstract] [Full Text] [Related]

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