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 *

138 related articles for article (PubMed ID: 30289068)

  • 1. Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers.
    Chen X; Sheng X; Liu G; Liu Y; Li H; Xie P; Liu Q; Yan B; Zhao C
    Curr Mol Med; 2018; 18(5):306-311. PubMed ID: 30289068
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.
    Chang W; Ding Q; Tang Z; Liu P; Jiang F; Ke T; Ren X; Wang Z; Liu J; Wang QK; Liu M
    Mol Vis; 2007 Aug; 13():1548-54. PubMed ID: 17893654
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.
    Sheng X; Li Z; Zhang X; Wang J; Ren H; Sun Y; Meng R; Rong W; Zhuang W
    Mol Vis; 2010 Aug; 16():1620-8. PubMed ID: 20806050
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
    Koenekoop RK; Loyer M; Hand CK; Al Mahdi H; Dembinska O; Beneish R; Racine J; Rouleau GA
    Am J Ophthalmol; 2003 Oct; 136(4):678-87. PubMed ID: 14516808
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.
    Zhang Z; Dai H; Wang L; Tao T; Xu J; Sun X; Yang L; Li G
    BMC Ophthalmol; 2019 Nov; 19(1):240. PubMed ID: 31775781
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
    Khateb S; Nassisi M; Bujakowska KM; Méjécase C; Condroyer C; Antonio A; Foussard M; Démontant V; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
    JAMA Ophthalmol; 2019 Jun; 137(6):669-679. PubMed ID: 30998820
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
    Zhang S; Li J; Li S; Yang Y; Yang M; Yang Z; Zhu X; Zhang L
    Ophthalmic Genet; 2018 Aug; 39(4):487-491. PubMed ID: 29693493
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
    Parmeggiani F; Barbaro V; De Nadai K; Lavezzo E; Toppo S; Chizzolini M; Palù G; Parolin C; Di Iorio E
    Sci Rep; 2016 Dec; 6():39179. PubMed ID: 27995965
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].
    Li ZL; Zhuang WJ; Zhao W; Zhang XF; Wang J; Meng RH; Rong WN; Sheng XL
    Zhonghua Yan Ke Za Zhi; 2011 Jun; 47(6):516-20. PubMed ID: 21914266
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.
    Fu J; Cheng J; Zhou Q; Wei C; Chen H; Lv H; Fu J
    Biosci Rep; 2019 Oct; 39(10):. PubMed ID: 31652454
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H; Diez Montero C; Villanueva Gómez A; Lobo Valentin R; Montero-Moreno JA
    Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
    Parmeggiani F; Barbaro V; Migliorati A; Raffa P; Nespeca P; De Nadai K; Del Vecchio C; Palù G; Parolin C; Di Iorio E
    Eur J Ophthalmol; 2017 Mar; 27(2):240-248. PubMed ID: 27768226
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
    Gu S; Tian Y; Chen X; Zhao C
    Mol Vis; 2016; 22():646-57. PubMed ID: 27375351
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.
    Wang Y; Lu L; Zhang D; Tan Y; Li D; He F; Jiao X; Yang M; Hejtmancik JF; Liu X
    Eye (Lond); 2021 Jun; 35(6):1688-1696. PubMed ID: 32839555
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
    Li Y; Li R; Dai H; Li G
    BMC Ophthalmol; 2022 Jan; 22(1):27. PubMed ID: 35033039
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
    Birtel J; Gliem M; Mangold E; Müller PL; Holz FG; Neuhaus C; Lenzner S; Zahnleiter D; Betz C; Eisenberger T; Bolz HJ; Charbel Issa P
    PLoS One; 2018; 13(12):e0207958. PubMed ID: 30543658
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.