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 *

70 related articles for article (PubMed ID: 14004188)

  • 1. [Is there an atypical chorioretinitis pigmentosa with autosomal-dominant inheritance?].
    WAARDENBURG PJ
    Klin Monbl Augenheilkd Augenarztl Fortbild; 1962 Apr; 140():305-8. PubMed ID: 14004188
    [No Abstract]   [Full Text] [Related]  

  • 2. A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree.
    Bass SJ; Noble KG
    Retina; 2008; 28(7):1013-4. PubMed ID: 18698306
    [TBL] [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. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S; Fishman GA; Stone EM
    Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
    Mylvaganam GH; McGee TL; Berson EL; Dryja TP
    Mol Vis; 2006 Dec; 12():1496-8. PubMed ID: 17167406
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal dominant retinitis pigmentosa in a five-generation pedigree in People's Republic of China.
    Teng Y; Wang W; Tian H; Wang H; Hu X; Chen Y; Bittles AH
    Eye (Lond); 2003 Nov; 17(9):1036-9. PubMed ID: 14704756
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E; Zdzieszyńska M; Goś R; Lewiński A
    Klin Oczna; 2004; 106(6):743-8. PubMed ID: 15787173
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M; Wada Y; Noda Y; Itabashi T; Ogawa S; Sato H; Tanaka K; Ishibashi T; Tamai M
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ; Hernan I; Maseras M; Baiget M; Ayuso C; Borrego S; Antiñolo G; Millán JM; Valverde D; Carballo M
    Mol Vis; 2005 Nov; 11():922-8. PubMed ID: 16280978
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy.
    Mendes HF; van der Spuy J; Chapple JP; Cheetham ME
    Trends Mol Med; 2005 Apr; 11(4):177-85. PubMed ID: 15823756
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant Retinitis pigmentosa: the Rho(-/-) mouse.
    Campbell M; Humphries M; Kennan A; Kenna P; Humphries P; Brankin B
    Exp Eye Res; 2006 Sep; 83(3):484-92. PubMed ID: 16643895
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.
    To K; Adamian M; Berson EL
    Am J Ophthalmol; 2004 May; 137(5):946-8. PubMed ID: 15126168
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [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]  

  • 18. Gene mutations in retinitis pigmentosa and their clinical implications.
    Wang DY; Chan WM; Tam PO; Baum L; Lam DS; Chong KK; Fan BJ; Pang CP
    Clin Chim Acta; 2005 Jan; 351(1-2):5-16. PubMed ID: 15563868
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
    Kanda A; Friedman JS; Nishiguchi KM; Swaroop A
    Hum Mutat; 2007 Jun; 28(6):589-98. PubMed ID: 17335001
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Early therapeutic trials for retinitis pigmentosa].
    Dufier JL
    Bull Acad Natl Med; 2003; 187(9):1685-92; discussion 1692-4. PubMed ID: 15369238
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.