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 *

124 related articles for article (PubMed ID: 37661650)

  • 41. Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
    Liu J; Zhang Y; Xuan Y; Liu W; Wang M
    Ophthalmic Res; 2016; 56(4):178-185. PubMed ID: 27078032
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. UNUSUAL EARLY-ONSET VITELLIFORM DYSTROPHY POSSIBLY LINKED TO THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 P.LEU154PRO MUTATION.
    Gupta MP; Brodie SE; Freund KB
    Retin Cases Brief Rep; 2021 Sep; 15(5):527-531. PubMed ID: 30688845
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
    Pappalardo J; Heath Jeffery RC; Thompson JA; Chelva E; Pham Q; Constable IJ; McLaren TL; Lamey TM; De Roach JN; Chen FK
    Doc Ophthalmol; 2021 Aug; 143(1):61-73. PubMed ID: 33512609
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
    Katagiri S; Hayashi T; Ohkuma Y; Sekiryu T; Takeuchi T; Gekka T; Kondo M; Iwata T; Tsuneoka H
    Br J Ophthalmol; 2015 Nov; 99(11):1577-82. PubMed ID: 26201355
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
    Frecer V; Iarossi G; Salvetti AP; Maltese PE; Delledonne G; Oldani M; Staurenghi G; Falsini B; Minnella AM; Ziccardi L; Magli A; Colombo L; D'Esposito F; Miertus J; Viola F; Attanasio M; Maggio E; Bertelli M
    J Transl Med; 2019 Oct; 17(1):330. PubMed ID: 31570112
    [TBL] [Abstract][Full Text] [Related]  

  • 48. SPACR Encoded by
    Olivier G; Brabet P; Pirot N; Broyon M; Guillou L; Cazevieille C; Sar C; Quiles M; Sarzi E; Pequignot M; Andreo E; Roubertie A; Meunier I; Muller A; Kalatzis V; Manes G
    Genes (Basel); 2022 Aug; 13(9):. PubMed ID: 36140676
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
    Lin Y; Li T; Gao H; Lian Y; Chen C; Zhu Y; Li Y; Liu B; Zhou W; Jiang H; Liu X; Zhao X; Liang X; Jin C; Huang X; Lu L
    Mol Med Rep; 2017 Oct; 16(4):4751-4755. PubMed ID: 28791410
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
    Nowomiejska K; Nasser F; Stingl K; Schimpf-Linzenbold S; Biskup S; Brzozowska A; Rejdak R; Kohl S; Zrenner E
    Acta Ophthalmol; 2022 May; 100(3):e847-e858. PubMed ID: 34327816
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Multimodal Imaging in Best Vitelliform Macular Dystrophy.
    Lima de Carvalho JR; Paavo M; Chen L; Chiang J; Tsang SH; Sparrow JR
    Invest Ophthalmol Vis Sci; 2019 May; 60(6):2012-2022. PubMed ID: 31070670
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.
    Seddon JM; Afshari MA; Sharma S; Bernstein PS; Chong S; Hutchinson A; Petrukhin K; Allikmets R
    Ophthalmology; 2001 Nov; 108(11):2060-7. PubMed ID: 11713080
    [TBL] [Abstract][Full Text] [Related]  

  • 53. BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
    Sodi A; Passerini I; Murro V; Caputo R; Bacci GM; Bodoj M; Torricelli F; Menchini U
    Mol Vis; 2012; 18():2736-48. PubMed ID: 23213274
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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; 17():3078-87. PubMed ID: 22162627
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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; 52(8):5332-8. PubMed ID: 21467170
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.
    Lin Y; Li T; Ma C; Gao H; Chen C; Zhu Y; Liu B; Lian Y; Huang Y; Li H; Wu Q; Liang X; Jin C; Huang X; Ye J; Lu L
    Mol Med Rep; 2018 Jan; 17(1):225-233. PubMed ID: 29115605
    [TBL] [Abstract][Full Text] [Related]  

  • 57. IMPG2-Related Maculopathy.
    Birtel J; Caswell R; De Silva SR; Herrmann P; Rehman S; Lotery AJ; Mahroo OA; Michaelides M; Webster AR; MacLaren RE; Charbel Issa P
    Am J Ophthalmol; 2024 Feb; 258():32-42. PubMed ID: 37806544
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.
    Bianco L; Arrigo A; Antropoli A; Berni A; Saladino A; Vilela MA; Mansour AM; Bandello F; Battaglia Parodi M
    Eur J Ophthalmol; 2024 Jan; 34(1):39-51. PubMed ID: 36972471
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family.
    Chatterjee S; Gupta S; Chaudhry VN; Chaudhry P; Mukherjee A; Mutsuddi M
    Gene; 2022 Mar; 816():146158. PubMed ID: 34990796
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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; 17():2272-82. PubMed ID: 21921978
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.