BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 10711677)

  • 1. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
    Paloma E; Hjelmqvist L; Bayés M; García-Sandoval B; Ayuso C; Balcells S; Gonzàlez-Duarte R
    Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):656-9. PubMed ID: 10711677
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM; El-Ashry MF; Barragan I; Marcos I; Borrego S; Antiñolo G; Bhattacharya SS
    Curr Eye Res; 2005 Dec; 30(12):1081-7. PubMed ID: 16354621
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
    Dryja TP; Rucinski DE; Chen SH; Berson EL
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1859-65. PubMed ID: 10393062
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
    Banerjee P; Kleyn PW; Knowles JA; Lewis CA; Ross BM; Parano E; Kovats SG; Lee JJ; Penchaszadeh GK; Ott J; Jacobson SG; Gilliam TC
    Nat Genet; 1998 Feb; 18(2):177-9. PubMed ID: 9462751
    [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. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L; Chen H; Liu M; Jin L; Wei Y; Wu X; Liu Y; Xhu R; Chai J
    Chin Med J (Engl); 2002 Jun; 115(6):833-6. PubMed ID: 12123547
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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]  

  • 8. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
    Wada Y; Abe T; Takeshita T; Sato H; Yanashima K; Tamai M
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2395-400. PubMed ID: 11527955
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
    Hagstrom SA; North MA; Nishina PL; Berson EL; Dryja TP
    Nat Genet; 1998 Feb; 18(2):174-6. PubMed ID: 9462750
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
    Rivolta C; Ayyagari R; Sieving PA; Berson EL; Dryja TP
    Mol Vis; 2003 Feb; 9():49-51. PubMed ID: 12592226
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ; Lai TY; Tam PO; Chiang SW; Zhang X; Lam S; Lai RY; Lam DS; Pang CP
    Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
    Mandal MN; Heckenlively JR; Burch T; Chen L; Vasireddy V; Koenekoop RK; Sieving PA; Ayyagari R
    Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3355-62. PubMed ID: 16123440
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
    Danciger M; Blaney J; Gao YQ; Zhao DY; Heckenlively JR; Jacobson SG; Farber DB
    Genomics; 1995 Nov; 30(1):1-7. PubMed ID: 8595886
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
    Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y; Dong B; Hu AL; Cui TT; Zheng YY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.
    Parminder AH; Murakami A; Inana G; Berson EL; Dryja TP
    Invest Ophthalmol Vis Sci; 1997 Mar; 38(3):704-9. PubMed ID: 9071225
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
    Cui Y; Zhao KX; Wang L; Wang Q; Zhang W; Chen WY; Wang LM
    Zhonghua Yan Ke Za Zhi; 2003 Jan; 39(1):28-32. PubMed ID: 12760810
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.