BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1097 related articles for article (PubMed ID: 23290749)

  • 1. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [TBL] [Abstract][Full Text] [Related]  

  • 2. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
    Toto L; Boon CJ; Di Antonio L; Battaglia Parodi M; Mastropasqua R; Antonucci I; Stuppia L; Mastropasqua L
    Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
    Lee CS; Jun I; Choi SI; Lee JH; Lee MG; Lee SC; Kim EK
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8141-50. PubMed ID: 26720466
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
    Sharon D; Al-Hamdani S; Engelsberg K; Mizrahi-Meissonnier L; Obolensky A; Banin E; Sander B; Jensen H; Larsen M; Schatz P
    Am J Ophthalmol; 2014 Mar; 157(3):697-709.e1-2. PubMed ID: 24345323
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
    Wivestad Jansson R; Berland S; Bredrup C; Austeng D; Andréasson S; Wittström E
    Ophthalmic Genet; 2016 Jun; 37(2):183-93. PubMed ID: 26333019
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
    Kubota D; Gocho K; Akeo K; Kikuchi S; Sugahara M; Matsumoto CS; Shinoda K; Mizota A; Yamaki K; Takahashi H; Kameya S
    Doc Ophthalmol; 2016 Jun; 132(3):233-43. PubMed ID: 27071392
    [TBL] [Abstract][Full Text] [Related]  

  • 7. New best1 mutations in autosomal recessive bestrophinopathy.
    Fung AT; Yzer S; Goldberg N; Wang H; Nissen M; Giovannini A; Merriam JE; Bukanova EN; Cai C; Yannuzzi LA; Tsang SH; Allikmets R
    Retina; 2015 Apr; 35(4):773-82. PubMed ID: 25545482
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
    Pomares E; Burés-Jelstrup A; Ruiz-Nogales S; Corcóstegui B; González-Duarte R; Navarro R
    Invest Ophthalmol Vis Sci; 2012 Jan; 53(1):532-7. PubMed ID: 22199244
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].
    Preising MN; Pasquay C; Friedburg C; Bowl W; Jäger M; Andrassi-Darida M; Lorenz B
    Klin Monbl Augenheilkd; 2012 Oct; 229(10):1009-17. PubMed ID: 23096145
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
    Crowley C; Paterson R; Lamey T; McLaren T; De Roach J; Chelva E; Khan J
    Doc Ophthalmol; 2014 Aug; 129(1):57-63. PubMed ID: 24859690
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.
    Zhong Y; Guo X; Xiao H; Luo J; Zuo C; Huang X; Huang J; Mi L; Zhang Q; Liu X
    PLoS One; 2017; 12(1):e0169395. PubMed ID: 28056057
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
    Luo J; Lin M; Guo X; Xiao X; Li J; Hu H; Xiao H; Xu X; Zhong Y; Long S; Luo G; Mi L; Chen X; Fang L; Wei W; Zhang Q; Liu X
    Acta Ophthalmol; 2019 May; 97(3):247-259. PubMed ID: 30593719
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R; Yang G; Wang J; Chen Y
    Mol Vis; 2014; 20():1594-604. PubMed ID: 25489231
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
    Querques G; Zerbib J; Santacroce R; Margaglione M; Delphin N; Querques L; Rozet JM; Kaplan J; Souied EH
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(7):4678-84. PubMed ID: 21436265
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
    Cascavilla ML; Querques G; Stenirri S; Battaglia Parodi M; Querques L; Bandello F
    Ophthalmic Res; 2012; 48(3):146-50. PubMed ID: 22584882
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).
    Gerth C; Zawadzki RJ; Werner JS; Héon E
    Doc Ophthalmol; 2009 Jun; 118(3):239-46. PubMed ID: 18985398
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK; Christoffersen NL; Sander B; Edmund C; Larsen M; Grau T; Wissinger B; Kohl S; Rosenberg T
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
    Kellner S; Stöhr H; Fiebig B; Weinitz S; Farmand G; Kellner U; Weber BH
    Ophthalmic Genet; 2016 Jun; 37(2):201-8. PubMed ID: 26771239
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
    Schatz P; Bitner H; Sander B; Holfort S; Andreasson S; Larsen M; Sharon D
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4754-65. PubMed ID: 20375334
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
    Haque OI; Chandrasekaran A; Nabi F; Ahmad O; Marques JP; Ahmad T
    BMC Ophthalmol; 2022 Dec; 22(1):493. PubMed ID: 36527004
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 55.