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Journal Abstract Search


119 related items for PubMed ID: 18844018

  • 21. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
    Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M.
    Ophthalmic Genet; 2002 Sep; 23(3):167-74. PubMed ID: 12324875
    [Abstract] [Full Text] [Related]

  • 22. Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.
    Qian CX, Charran D, Strong CR, Steffens TJ, Jayasundera T, Heckenlively JR.
    Ophthalmology; 2017 Apr; 124(4):456-463. PubMed ID: 28187978
    [Abstract] [Full Text] [Related]

  • 23. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
    Sohn EH, Francis PJ, Duncan JL, Weleber RG, Saperstein DA, Farrell DF, Stone EM.
    Arch Ophthalmol; 2009 Jul; 127(7):913-20. PubMed ID: 19597114
    [Abstract] [Full Text] [Related]

  • 24. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.
    Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F.
    J Fr Ophtalmol; 2007 Jun; 30(6):616-20. PubMed ID: 17646752
    [Abstract] [Full Text] [Related]

  • 25. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
    Piñeiro-Gallego T, Álvarez M, Pereiro I, Campos S, Sharon D, Schatz P, Valverde D.
    Mol Vis; 2011 Jun; 17():1607-17. PubMed ID: 21738390
    [Abstract] [Full Text] [Related]

  • 26. [Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients].
    Xue Y, Zhang Y, Wang M, Liu W, Xu G.
    Zhonghua Yan Ke Za Zhi; 2014 Jul; 50(7):523-8. PubMed ID: 25312462
    [Abstract] [Full Text] [Related]

  • 27. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
    Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M.
    Am J Ophthalmol; 2000 Feb; 129(2):260-2. PubMed ID: 10682987
    [Abstract] [Full Text] [Related]

  • 28. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
    Marchant D, Gogat K, Boutboul S, Péquignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M.
    Hum Mutat; 2001 Mar; 17(3):235. PubMed ID: 11241846
    [Abstract] [Full Text] [Related]

  • 29. Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
    Glavač D, Jarc-Vidmar M, Vrabec K, Ravnik-Glavač M, Fakin A, Hawlina M.
    Acta Ophthalmol; 2016 Dec; 94(8):e786-e794. PubMed ID: 27775230
    [Abstract] [Full Text] [Related]

  • 30. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
    Sodi A, Menchini F, Manitto MP, Passerini I, Murro V, Torricelli F, Menchini U.
    Mol Vis; 2011 Dec; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 31. The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.
    Xuan Y, Zhang Y, Zong Y, Wang M, Li L, Ye X, Liu W, Chen J, Sun X, Zhang Y, Chen Y.
    Am J Ophthalmol; 2020 Aug; 216():69-79. PubMed ID: 32278767
    [Abstract] [Full Text] [Related]

  • 32. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
    Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B.
    Graefes Arch Clin Exp Ophthalmol; 2006 Nov; 244(11):1453-66. PubMed ID: 16612637
    [Abstract] [Full Text] [Related]

  • 33. Outer retinal structure in best vitelliform macular dystrophy.
    Kay DB, Land ME, Cooper RF, Dubis AM, Godara P, Dubra A, Carroll J, Stepien KE.
    JAMA Ophthalmol; 2013 Sep; 131(9):1207-15. PubMed ID: 23765342
    [Abstract] [Full Text] [Related]

  • 34. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
    Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E.
    Invest Ophthalmol Vis Sci; 2011 Jul 18; 52(8):5332-8. PubMed ID: 21467170
    [Abstract] [Full Text] [Related]

  • 35. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
    Low S, Davidson AE, Holder GE, Hogg CR, Bhattacharya SS, Black GC, Foster PJ, Webster AR.
    Mol Vis; 2011 Jul 18; 17():2272-82. PubMed ID: 21921978
    [Abstract] [Full Text] [Related]

  • 36. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.
    Wittström E, Ponjavic V, Bondeson ML, Andréasson S.
    Ophthalmic Genet; 2011 Nov 18; 32(4):217-27. PubMed ID: 21473666
    [Abstract] [Full Text] [Related]

  • 37. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
    Gao T, Tian C, Hu Q, Liu Z, Zou J, Huang L, Zhao M.
    Biomed Res Int; 2018 Nov 18; 2018():4582816. PubMed ID: 30498755
    [Abstract] [Full Text] [Related]

  • 38. Novel de novo mutation in a patient with Best macular dystrophy.
    Apushkin MA, Fishman GA, Taylor CM, Stone EM.
    Arch Ophthalmol; 2006 Jun 18; 124(6):887-9. PubMed ID: 16769844
    [Abstract] [Full Text] [Related]

  • 39. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
    Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, Lee C, Hughes G, Lee J, Quach J, Zhu J, Shaw PX, Kozak I, Zhang K.
    Eye (Lond); 2012 Jun 18; 26(6):866-71. PubMed ID: 22422030
    [Abstract] [Full Text] [Related]

  • 40. Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.
    Ponjavic V, Eksandh L, Andréasson S, Sjöström K, Bakall B, Ingvast S, Wadelius C, Ehinger B.
    Ophthalmic Genet; 1999 Dec 18; 20(4):251-7. PubMed ID: 10617923
    [Abstract] [Full Text] [Related]


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