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 *

79 related articles for article (PubMed ID: 17297720)

  • 1. Gene symbol: PRPF31. Disease: Retinitis pigmentosa. Accession #Hs0514.
    Gandra M; Sundaramurthy S; Kumaramanickavel G
    Hum Genet; 2006 Feb; 118(6):785. PubMed ID: 17297720
    [No Abstract]   [Full Text] [Related]  

  • 2. Gene symbol: PRPF31. Disease: Retinitis pigmentosa. Accession #Hs0513.
    Gandra M; Sundaramurthy S; Kumaramanickavel G
    Hum Genet; 2006 Feb; 118(6):784. PubMed ID: 17297719
    [No Abstract]   [Full Text] [Related]  

  • 3. Gene symbol: PRPF31. Disease: retinitis pigmentosa--autosomal dominant.
    Gandra M; Srilekha S; Kumamaramanickavel G
    Hum Genet; 2005 Dec; 118(3-4):548. PubMed ID: 16521310
    [No Abstract]   [Full Text] [Related]  

  • 4. Gene symbol: PRPF31.
    Mamatha G; Venkataramana A; Srilekha S; Kumaramanickavel G
    Hum Genet; 2007 Feb; 120(6):908. PubMed ID: 17438597
    [No Abstract]   [Full Text] [Related]  

  • 5. Gene symbol: RPGR. Disease: Retinitis Pigmentosa.
    Giménez A; Riveiro R; Trujillo-Tiebas MJ; Aguirre J; Avila A; García-Hoyos M; Ayuso C
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846630
    [No Abstract]   [Full Text] [Related]  

  • 6. Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
    Vallespin E; Riveiro-Alvarez R; Aguirre-Lamban J; Cantalapiedra D; Tapias I; Garcia-Sandoval B; Trujillo-Tiebas MJ; Ayuso C
    Hum Genet; 2006 Jul; 119(6):681. PubMed ID: 17128490
    [No Abstract]   [Full Text] [Related]  

  • 7. Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.
    Vallespin E; Cantalapiedra D; Riveiro-Alvarez R; Aguirre-Lamban J; Avila-Fernandez A; Martinez MA; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
    Hum Genet; 2007 Sep; 122(2):212. PubMed ID: 18386368
    [No Abstract]   [Full Text] [Related]  

  • 8. PRPF31 alternative splicing and expression in human retina.
    Tanackovic G; Rivolta C
    Ophthalmic Genet; 2009 Jun; 30(2):76-83. PubMed ID: 19373678
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
    Hafler BP; Comander J; Weigel DiFranco C; Place EM; Pierce EA
    Semin Ophthalmol; 2016; 31(1-2):49-52. PubMed ID: 26959129
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
    Rio Frio T; Civic N; Ransijn A; Beckmann JS; Rivolta C
    Hum Mol Genet; 2008 Oct; 17(20):3154-65. PubMed ID: 18640990
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
    Ghazawy S; Springell K; Gauba V; McKibbin MA; Inglehearn CF
    Br J Ophthalmol; 2007 Oct; 91(10):1411-3. PubMed ID: 17895420
    [No Abstract]   [Full Text] [Related]  

  • 12. Gene symbol: RP2.
    Villaverde-Montero C; García-Hoyos M; Giménez-Pardo A; Trujillo-Tiebas MJ; Baiget M; Ayuso C
    Hum Genet; 2007 Apr; 121(2):289. PubMed ID: 17598203
    [No Abstract]   [Full Text] [Related]  

  • 13. RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
    Veltel S; Wittinghofer A
    Expert Opin Ther Targets; 2009 Oct; 13(10):1239-51. PubMed ID: 19702441
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Candidate gene approach].
    Hotta Y; Fujiki K
    Tanpakushitsu Kakusan Koso; 1996 Nov; 41(15 Suppl):2433-40. PubMed ID: 8952407
    [No Abstract]   [Full Text] [Related]  

  • 15. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
    Pomares E; Riera M; Castro-Navarro J; Andrés-Gutiérrez A; Gonzàlez-Duarte R; Marfany G
    Invest Ophthalmol Vis Sci; 2009 Nov; 50(11):5107-14. PubMed ID: 19516003
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
    de la Cerda B; Díez-Lloret A; Ponte B; Vallés-Saiz L; Calado SM; Rodríguez-Bocanegra E; Garcia-Delgado AB; Moya-Molina M; Bhattacharya SS; Díaz-Corrales FJ
    Stem Cell Res; 2019 Apr; 36():101426. PubMed ID: 30921587
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
    Reig C; Martinez-Gimeno M; Carballo M
    Hum Mutat; 2000 Sep; 16(3):278. PubMed ID: 10980553
    [No Abstract]   [Full Text] [Related]  

  • 18. Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.
    Evans RJ; Hardcastle AJ; Cheetham ME
    Exp Eye Res; 2006 Apr; 82(4):543-4. PubMed ID: 16310188
    [No Abstract]   [Full Text] [Related]  

  • 19. Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa.
    Finsterer J; Regelsberger G; Voigtländer T
    J Neurol Sci; 2008 Mar; 266(1-2):182-6. PubMed ID: 17905308
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene of the month:
    Rose AM; Luo R; Radia UK; Bhattacharya SS
    J Clin Pathol; 2017 Sep; 70(9):729-732. PubMed ID: 28663330
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.