BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 19050727)

  • 21. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
    Venturini G; Rose AM; Shah AZ; Bhattacharya SS; Rivolta C
    PLoS Genet; 2012; 8(11):e1003040. PubMed ID: 23144630
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family.
    Dai LL; Sun DW; Wang Z; Fu SB; Huang SZ; Zhang ZY; Zeng G; Peng SM
    Chin Med J (Engl); 2009 May; 122(9):1097-101. PubMed ID: 19493447
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
    Waseem NH; Vaclavik V; Webster A; Jenkins SA; Bird AC; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1330-4. PubMed ID: 17325180
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
    Xia K; Zheng D; Pan Q; Liu Z; Xi X; Hu Z; Deng H; Liu X; Jiang D; Deng H; Xia J
    Mol Vis; 2004 May; 10():361-5. PubMed ID: 15162096
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.
    Cao L; Peng C; Yu J; Jiang W; Yang J
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1537. PubMed ID: 33085829
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
    Sato H; Wada Y; Itabashi T; Nakamura M; Kawamura M; Tamai M
    Am J Ophthalmol; 2005 Sep; 140(3):537-40. PubMed ID: 16139010
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Expression of PRPF31 and TFPT: regulation in health and retinal disease.
    Rose AM; Shah AZ; Waseem NH; Chakarova CF; Alfano G; Coussa RG; Ajlan R; Koenekoop RK; Bhattacharya SS
    Hum Mol Genet; 2012 Sep; 21(18):4126-37. PubMed ID: 22723017
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
    Liu JY; Dai X; Sheng J; Cui X; Wang X; Jiang X; Tu X; Tang Z; Bai Y; Liu M; Wang QK
    Biochem Biophys Res Commun; 2008 Mar; 367(2):420-6. PubMed ID: 18177735
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
    Sullivan LS; Bowne SJ; Birch DG; Hughbanks-Wheaton D; Heckenlively JR; Lewis RA; Garcia CA; Ruiz RS; Blanton SH; Northrup H; Gire AI; Seaman R; Duzkale H; Spellicy CJ; Zhu J; Shankar SP; Daiger SP
    Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3052-64. PubMed ID: 16799052
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
    Utz VM; Beight CD; Marino MJ; Hagstrom SA; Traboulsi EI
    Ophthalmic Genet; 2013 Dec; 34(4):183-8. PubMed ID: 23343310
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.
    Golovleva I; Köhn L; Burstedt M; Daiger S; Sandgren O
    Adv Exp Med Biol; 2010; 664():255-62. PubMed ID: 20238024
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
    Audo I; Bujakowska K; Mohand-Saïd S; Lancelot ME; Moskova-Doumanova V; Waseem NH; Antonio A; Sahel JA; Bhattacharya SS; Zeitz C
    BMC Med Genet; 2010 Oct; 11():145. PubMed ID: 20939871
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
    Rose AM; Bhattacharya SS
    Clin Genet; 2016 Aug; 90(2):118-26. PubMed ID: 26853529
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification of a novel pathogenic missense mutation in
    Bryant L; Lozynska O; Marsh A; Papp TE; van Gorder L; Serrano LW; Gai X; Maguire AM; Aleman TS; Bennett J
    Br J Ophthalmol; 2019 Jun; 103(6):761-767. PubMed ID: 30030392
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
    Abdulridha-Aboud W; Kjellström U; Andréasson S; Ponjavic V
    Mol Vis; 2016; 22():362-73. PubMed ID: 27212874
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.
    Al-Maghtheh M; Vithana E; Tarttelin E; Jay M; Evans K; Moore T; Bhattacharya S; Inglehearn CF
    Am J Hum Genet; 1996 Oct; 59(4):864-71. PubMed ID: 8808602
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
    Daiger SP; Bowne SJ; Sullivan LS; Branham K; Wheaton DK; Jones KD; Avery CE; Cadena ED; Heckenlively JR; Birch DG
    Adv Exp Med Biol; 2018; 1074():237-245. PubMed ID: 29721949
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
    Chakarova CF; Cherninkova S; Tournev I; Waseem N; Kaneva R; Jordanova A; Veraitch BK; Gill B; Colclough T; Nakova A; Oscar A; Mihaylova V; Nikolova-Hill A; Wright AF; Black GC; Ramsden S; Kremensky I; Bhattacharya SS
    Mol Vis; 2006 Aug; 12():909-14. PubMed ID: 16917484
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
    Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2016; 22():797-815. PubMed ID: 27440997
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.