These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 39048936)

  • 1. Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
    Zhao D; Gu VY; Wang Y; Peng J; Lyu J; Fei P; Xu Y; Zhang X; Zhao P
    BMC Ophthalmol; 2024 Jul; 24(1):308. PubMed ID: 39048936
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
    Pfister TA; Zein WM; Cukras CA; Sen HN; Maldonado RS; Huryn LA; Hufnagel RB
    Invest Ophthalmol Vis Sci; 2021 May; 62(6):22. PubMed ID: 34015078
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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. Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
    Gao FJ; Qi YH; Hu FY; Wang DD; Xu P; Guo JL; Li JK; Zhang YJ; Li W; Chen F; Xu GZ; Liu W; Chang Q; Wu JH
    Br J Ophthalmol; 2020 Jun; 104(6):846-851. PubMed ID: 31519547
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
    Shah M; Broadgate S; Shanks M; Clouston P; Yu J; MacLaren RE; Németh AH; Halford S; Downes SM
    JAMA Ophthalmol; 2020 May; 138(5):544-551. PubMed ID: 32239196
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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; 47(6):104097. PubMed ID: 38518704
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Missense Mutations in
    Jaffal L; Joumaa WH; Assi A; Helou C; Condroyer C; El Dor M; Cherfan G; Zeitz C; Audo I; Zibara K; El Shamieh S
    Genes (Basel); 2019 Feb; 10(2):. PubMed ID: 30781664
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
    Casalino G; Khan KN; Armengol M; Wright G; Pontikos N; Georgiou M; Webster AR; Robson AG; Grewal PS; Michaelides M
    Ophthalmology; 2021 May; 128(5):706-718. PubMed ID: 33039401
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
    Nakanishi A; Ueno S; Hayashi T; Katagiri S; Kominami T; Ito Y; Gekka T; Masuda Y; Tsuneoka H; Shinoda K; Hirakata A; Inoue M; Fujinami K; Tsunoda K; Iwata T; Terasaki H
    Am J Ophthalmol; 2016 Aug; 168():86-94. PubMed ID: 27163236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
    Habibi I; Falfoul Y; Todorova MG; Wyrsch S; Vaclavik V; Helfenstein M; Turki A; Matri KE; Matri LE; Schorderet DF
    Genes (Basel); 2019 Nov; 10(12):. PubMed ID: 31766397
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
    Chibani Z; Abid IZ; Molbaek A; Söderkvist P; Feki J; Hmani-Aifa M
    Clin Exp Ophthalmol; 2019 Nov; 47(8):1063-1073. PubMed ID: 31254423
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.