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    Results: 1 to 20 of 416

    1.

    A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

    Testa F, Rossi S, Passerini I, Sodi A, Di Iorio V, Interlandi E, Della Corte M, Menchini U, Rinaldi E, Torricelli F, Simonelli F.

    Br J Ophthalmol. 2008 Nov;92(11):1467-70. Epub 2008 Aug 14.PMID: 18703557 [PubMed - indexed for MEDLINE]Related articles

    2.

    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.PMID: 19597114 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

    Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.

    Ophthalmic Genet. 2008 Sep;29(3):139-44.PMID: 18766995 [PubMed - indexed for MEDLINE]Related articles

    4.

    Phenotype and genotype correlations in two best families.

    Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA.

    Ophthalmology. 2003 Sep;110(9):1724-31.PMID: 13129869 [PubMed - indexed for MEDLINE]Related articles

    5.

    [Best's disease with normal EOG. Case report of familial macular dystrophy]

    Pollack K, Kreuz FR, Pillunat LE.

    Ophthalmologe. 2005 Sep;102(9):891-4. German. PMID: 15657694 [PubMed - indexed for MEDLINE]Related articles

    6.

    Identification of a novel VMD2 mutation in Japanese patients with Best disease.

    Yanagi Y, Sekine H, Mori M.

    Ophthalmic Genet. 2002 Jun;23(2):129-33.PMID: 12187431 [PubMed - indexed for MEDLINE]Related articles

    7.

    [Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]

    Clausen I, Weidle E, Duncker G, Grünauer-Kloevekorn C.

    Klin Monbl Augenheilkd. 2009 Jun;226(6):466-9. Epub 2009 Jun 8. German. PMID: 19507099 [PubMed - indexed for MEDLINE]Related articles

    8.

    Novel de novo mutation in a patient with Best macular dystrophy.

    Apushkin MA, Fishman GA, Taylor CM, Stone EM.

    Arch Ophthalmol. 2006 Jun;124(6):887-9.PMID: 16769844 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.

    Esumi N, Kachi S, Hackler L Jr, Masuda T, Yang Z, Campochiaro PA, Zack DJ.

    Hum Mol Genet. 2009 Jan 1;18(1):128-41. Epub 2008 Oct 10.PMID: 18849347 [PubMed - indexed for MEDLINE]Related articles

    10.

    The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.

    Kiratli H, Irkeç M, Ozgül K, Ogüş A.

    Eur J Ophthalmol. 2001 Oct-Dec;11(4):333-7.PMID: 11820303 [PubMed - indexed for MEDLINE]Related articles

    11.

    Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

    Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB.

    Retina. 2009 Jun;29(6):835-47.PMID: 19357557 [PubMed - indexed for MEDLINE]Related articles

    12.

    Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

    Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.

    Am J Hum Genet. 2008 Jan;82(1):19-31.PMID: 18179881 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.

    Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F.

    Kidney Int. 2003 Jan;63(1):24-32.PMID: 12472765 [PubMed - indexed for MEDLINE]Related articles

    14.

    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.PMID: 10682987 [PubMed - indexed for MEDLINE]Related articles

    15.

    Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

    Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S.

    Ophthalmic Genet. 2001 Jun;22(2):107-15.PMID: 11449320 [PubMed - indexed for MEDLINE]Related articles

    16.

    Gene symbol: BEST1. Disease: Best macular dystrophy.

    Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C.

    Hum Genet. 2008 Feb;123(1):112. No abstract available. PMID: 18386373 [PubMed - indexed for MEDLINE]Related articles

    17.

    Gene symbol: BEST1. Disease: Best macular dystrophy.

    Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.

    Hum Genet. 2008 Feb;123(1):111. No abstract available. PMID: 18386364 [PubMed - indexed for MEDLINE]Related articles

    18.

    Gene symbol: BEST1. Disease: Best macular dystrophy.

    Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.

    Hum Genet. 2008 Feb;123(1):110. No abstract available. PMID: 18386355 [PubMed - indexed for MEDLINE]Related articles

    19.

    Gene symbol: BEST1. Disease: Best macular dystrophy.

    Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.

    Hum Genet. 2008 Feb;123(1):110. No abstract available. PMID: 18386350 [PubMed - indexed for MEDLINE]Related articles

    20.

    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.PMID: 17646752 [PubMed - indexed for MEDLINE]Related articlesFree article

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