BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 12882812)

  • 21. 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]  

  • 22. RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.
    Al-Rashed M; Abu Safieh L; Alkuraya H; Aldahmesh MA; Alzahrani J; Diya M; Hashem M; Hardcastle AJ; Al-Hazzaa SA; Alkuraya FS
    Br J Ophthalmol; 2012 Jul; 96(7):1018-22. PubMed ID: 22317909
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
    Zhang X; Yeung KY; Pang CP; Fu W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):194-7. PubMed ID: 12048676
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
    Kabir F; Ullah I; Ali S; Gottsch AD; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2016; 22():610-25. PubMed ID: 27307693
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.
    Nalbantoglu SM; Shahbazov C; Berdeli A
    OMICS; 2012; 16(1-2):18-23. PubMed ID: 22321012
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA; Grover S; Jacobson SG; Alexander KR; Derlacki DJ; Wu W; Buraczynska M; Swaroop A
    Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
    Kim C; Kim KJ; Bok J; Lee EJ; Kim DJ; Oh JH; Park SP; Shin JY; Lee JY; Yu HG
    Mol Vis; 2012; 18():2398-410. PubMed ID: 23049240
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical heterogeneity in retinitis pigmentosa caused by variants in
    Al-Bdour M; Pauleck S; Dardas Z; Barham R; Ali D; Amr S; Mustafa L; Abu-Ameerh M; Maswadi R; Azab B; Awidi A
    Mol Vis; 2020; 26():445-458. PubMed ID: 32587456
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
    Li S; Yang M; Liu W; Liu Y; Zhang L; Yang Y; Sundaresan P; Yang Z; Zhu X
    Genet Test Mol Biomarkers; 2018 Feb; 22(2):109-114. PubMed ID: 29425069
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.
    Richards JE; Scott KM; Sieving PA
    Ophthalmology; 1995 Apr; 102(4):669-77. PubMed ID: 7724183
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.
    Nishiguchi KM; Fujita K; Ikeda Y; Kunikata H; Koyanagi Y; Akiyama M; Abe T; Wada Y; Sonoda KH; Nakazawa T
    Jpn J Ophthalmol; 2020 Jul; 64(4):346-350. PubMed ID: 32193659
    [TBL] [Abstract][Full Text] [Related]  

  • 36.
    D'Esposito F; Randazzo V; Vega MI; Esposito G; Maltese PE; Torregrossa S; Scibetta P; Listì F; Gagliano C; Scalia L; Pioppo A; Marino A; Piergentili M; Malvone E; Fioretti T; Vitrano A; Piccione M; Avitabile T; Salvatore F; Bertelli M; Costagliola C; Cordeiro MF; Maggio A; D'Alcamo E
    Medicina (Kaunas); 2024 Feb; 60(2):. PubMed ID: 38399542
    [No Abstract]   [Full Text] [Related]  

  • 37. Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene.
    Mukhopadhyay R; Holder GE; Moore AT; Webster AR
    Arch Ophthalmol; 2011 Jul; 129(7):954-6. PubMed ID: 21746989
    [No Abstract]   [Full Text] [Related]  

  • 38. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
    Bowne SJ; Daiger SP; Hims MM; Sohocki MM; Malone KA; McKie AB; Heckenlively JR; Birch DG; Inglehearn CF; Bhattacharya SS; Bird A; Sullivan LS
    Hum Mol Genet; 1999 Oct; 8(11):2121-8. PubMed ID: 10484783
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Differential pattern of RP1 mutations in retinitis pigmentosa.
    Zhang X; Chen LJ; Law JP; Lai TY; Chiang SW; Tam PO; Chu KY; Wang N; Zhang M; Pang CP
    Mol Vis; 2010 Jul; 16():1353-60. PubMed ID: 20664799
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.