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 *

283 related articles for article (PubMed ID: 17653054)

  • 21. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.
    Fujita R; Buraczynska M; Gieser L; Wu W; Forsythe P; Abrahamson M; Jacobson SG; Sieving PA; Andréasson S; Swaroop A
    Am J Hum Genet; 1997 Sep; 61(3):571-80. PubMed ID: 9326322
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.
    Kaukonen M; Quintero IB; Mukarram AK; Hytönen MK; Holopainen S; Wickström K; Kyöstilä K; Arumilli M; Jalomäki S; Daub CO; Kere J; Lohi H;
    PLoS Genet; 2020 Mar; 16(3):e1008659. PubMed ID: 32150541
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS
    Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
    Zangerl B; Goldstein O; Philp AR; Lindauer SJ; Pearce-Kelling SE; Mullins RF; Graphodatsky AS; Ripoll D; Felix JS; Stone EM; Acland GM; Aguirre GD
    Genomics; 2006 Nov; 88(5):551-63. PubMed ID: 16938425
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs.
    Dekomien G; Epplen JT
    Genet Sel Evol; 2003; 35(4):445-56. PubMed ID: 12927076
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.
    Winkler PA; Ekenstedt KJ; Occelli LM; Frattaroli AV; Bartoe JT; Venta PJ; Petersen-Jones SM
    PLoS One; 2013; 8(8):e72229. PubMed ID: 23977260
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.
    Miyadera K; Brierley I; Aguirre-Hernández J; Mellersh CS; Sargan DR
    PLoS One; 2012; 7(12):e51598. PubMed ID: 23251588
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
    McLaughlin ME; Sandberg MA; Berson EL; Dryja TP
    Nat Genet; 1993 Jun; 4(2):130-4. PubMed ID: 8394174
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
    Haddad MF; Khabour OF; Abuzaideh KA; Shihadeh W
    Genet Mol Res; 2016 Jun; 15(2):. PubMed ID: 27323122
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
    Roepman R; Bernoud-Hubac N; Schick DE; Maugeri A; Berger W; Ropers HH; Cremers FP; Ferreira PA
    Hum Mol Genet; 2000 Sep; 9(14):2095-105. PubMed ID: 10958648
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
    Aguirre GD; Yashar BM; John SK; Smith JE; Breuer DK; Hiriyanna S; Swaroop A; Milam AH
    Exp Eye Res; 2002 Oct; 75(4):431-43. PubMed ID: 12387791
    [TBL] [Abstract][Full Text] [Related]  

  • 32. X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
    Fahim AT; Sullivan LS; Bowne SJ; Jones KD; Wheaton DKH; Khan NW; Heckenlively JR; Jayasundera KT; Branham KH; Andrews CA; Othman MI; Karoukis AJ; Birch DG; Daiger SP
    Ophthalmol Retina; 2020 May; 4(5):510-520. PubMed ID: 31953110
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
    Beltran WA; Cideciyan AV; Boye SE; Ye GJ; Iwabe S; Dufour VL; Marinho LF; Swider M; Kosyk MS; Sha J; Boye SL; Peterson JJ; Witherspoon CD; Alexander JJ; Ying GS; Shearman MS; Chulay JD; Hauswirth WW; Gamlin PD; Jacobson SG; Aguirre GD
    Mol Ther; 2017 Aug; 25(8):1866-1880. PubMed ID: 28566226
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
    Jin ZB; Gu F; Ma X; Nao-i N
    Arch Ophthalmol; 2007 Oct; 125(10):1407-12. PubMed ID: 17923551
    [TBL] [Abstract][Full Text] [Related]  

  • 35. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog.
    Petersen-Jones SM; Entz DD; Sargan DR
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1637-44. PubMed ID: 10393029
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
    Kousal B; Skalicka P; Valesova L; Fletcher T; Hart-Holden N; O'Grady A; Chakarova CF; Michaelides M; Hardcastle AJ; Liskova P
    Mol Vis; 2014; 20():1307-17. PubMed ID: 25352739
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S; Fishman GA; Swaroop A; Branham KE; Lindeman M; Othman M; Weleber RG
    Arch Ophthalmol; 2008 Mar; 126(3):379-84. PubMed ID: 18332319
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
    Chakarova CF; Hims MM; Bolz H; Abu-Safieh L; Patel RJ; Papaioannou MG; Inglehearn CF; Keen TJ; Willis C; Moore AT; Rosenberg T; Webster AR; Bird AC; Gal A; Hunt D; Vithana EN; Bhattacharya SS
    Hum Mol Genet; 2002 Jan; 11(1):87-92. PubMed ID: 11773002
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
    Ferreira PA
    Hum Mol Genet; 2005 Oct; 14 Spec No. 2(SPEC):R259-67. PubMed ID: 16244324
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
    Vervoort R; Wright AF
    Hum Mutat; 2002 May; 19(5):486-500. PubMed ID: 11968081
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.