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Journal Abstract Search

431 related items for PubMed ID: 26720466

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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 6. Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.
    Johnson AA, Bachman LA, Gilles BJ, Cross SD, Stelzig KE, Resch ZT, Marmorstein LY, Pulido JS, Marmorstein AD.
    Invest Ophthalmol Vis Sci; 2015 Jul; 56(8):4619-30. PubMed ID: 26200502
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  • 8. 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
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  • 9. 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 31; 53(1):532-7. PubMed ID: 22199244
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  • 11. [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 31; 229(10):1009-17. PubMed ID: 23096145
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  • 12. 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 31; 129(1):57-63. PubMed ID: 24859690
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  • 13. 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 31; 37(2):201-8. PubMed ID: 26771239
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  • 15. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Jun 31; 20():1594-604. PubMed ID: 25489231
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  • 16. 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 31; 97(3):247-259. PubMed ID: 30593719
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  • 17. Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
    Soto-Sierra M, Morillo-Sánchez MJ, Martín-Sánchez M, Ramos-Jiménez M, López-Domínguez M, Ponte-Zuñiga B, Antiñolo G, Rodríguez-de-la-Rúa E.
    Eur J Ophthalmol; 2022 Sep 31; 32(5):NP77-NP81. PubMed ID: 33866859
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  • 18. 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 Sep 31; 17():2272-82. PubMed ID: 21921978
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  • 19. 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 31; 118(3):239-46. PubMed ID: 18985398
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  • 20. Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.
    Tekin K, Dulger SC, Horozoglu Ceran T, Inanc M, Ozdal PC, Teke MY.
    J Fr Ophtalmol; 2024 Jun 31; 47(6):104097. PubMed ID: 38518704
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