BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 24499697)

  • 1. [Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].
    Chen X; Gao X; Zhao KX; Pan XY; Zhang XM; Wang XY; Yuan ST; Liu QH; Zhao C
    Zhonghua Yan Ke Za Zhi; 2013 Dec; 49(12):1104-10. PubMed ID: 24499697
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
    Benaglio P; McGee TL; Capelli LP; Harper S; Berson EL; Rivolta C
    Hum Mutat; 2011 Jun; 32(6):E2246-58. PubMed ID: 21618346
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
    Pan X; Chen X; Liu X; Gao X; Kang X; Xu Q; Chen X; Zhao K; Zhang X; Chu Q; Wang X; Zhao C
    Mol Vis; 2014; 20():770-9. PubMed ID: 24940031
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
    Escher P; Passarin O; Munier FL; Tran VH; Vaclavik V
    Ophthalmic Genet; 2018; 39(1):80-86. PubMed ID: 29087248
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
    Wu Z; Zhong M; Li M; Huang H; Liao J; Lu A; Guo K; Ma N; Lin J; Duan J; Liu L; Xu F; Zhong Z; Chen J
    Curr Mol Med; 2018; 18(5):287-294. PubMed ID: 30360737
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
    Borràs E; de Sousa Dias M; Hernan I; Pascual B; Mañé B; Gamundi MJ; Delás B; Carballo M
    Clin Genet; 2013 Nov; 84(5):441-52. PubMed ID: 23534816
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR; Crowe P; Muszynska D; O'Prey D; O'Neill J; Alexander S; Willoughby CE; McKay GJ; Silvestri G; Simpson DA
    Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].
    Kousal B; Skalická P; Diblík P; Kuthan P; Langrová H; Lišková P
    Cesk Slov Oftalmol; 2013 Mar; 69(1):8-15. PubMed ID: 23822596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
    Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa].
    Xi XH; Zheng D; Xia K; Pan Q; Lei LY; Liu Z; Tang CZ; Xia JH; Jiang DY; Deng HX
    Zhonghua Yan Ke Za Zhi; 2005 Nov; 41(11):1020-6. PubMed ID: 16318756
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
    Liu T; Jin X; Zhang X; Yuan H; Cheng J; Lee J; Zhang B; Zhang M; Wu J; Wang L; Tian G; Wang W
    PLoS One; 2012; 7(9):e45464. PubMed ID: 23029027
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
    Gerth-Kahlert C; Koller S; Hanson JVM; Baehr L; Tiwari A; Kivrak-Pfiffner F; Bahr A; Berger W
    Invest Ophthalmol Vis Sci; 2019 Jul; 60(8):2822-2835. PubMed ID: 31260034
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
    Bowne SJ; Sullivan LS; Avery CE; Sasser EM; Roorda A; Duncan JL; Wheaton DH; Birch DG; Branham KE; Heckenlively JR; Sieving PA; Daiger SP
    Mol Vis; 2013; 19():2407-17. PubMed ID: 24319334
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
    Schuster A; Weisschuh N; Jägle H; Besch D; Janecke AR; Zierler H; Tippmann S; Zrenner E; Wissinger B
    Br J Ophthalmol; 2005 Oct; 89(10):1258-64. PubMed ID: 16170112
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
    Coussa RG; Chakarova C; Ajlan R; Taha M; Kavalec C; Gomolin J; Khan A; Lopez I; Ren H; Waseem N; Kamenarova K; Bhattacharya SS; Koenekoop RK
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8297-305. PubMed ID: 26720483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
    Meng X; Liu X; Li Y; Guo T; Yang L
    Acta Ophthalmol; 2021 Jun; 99(4):e447-e460. PubMed ID: 33124170
    [TBL] [Abstract][Full Text] [Related]  

  • 19. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
    Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM; Kimchi A; Ratnapriya R; Roberts L; Astuti GDN; Obolensky A; Beryozkin A; Tjon-Fo-Sang MJH; Schuil J; Klaver CCW; Bongers EMHF; Haer-Wigman L; Schalij N; Breuning MH; Fischer GM; Banin E; Ramesar RS; Swaroop A; van den Born LI; Sharon D; Cremers FPM
    Ophthalmology; 2017 Jul; 124(7):992-1003. PubMed ID: 28412069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.