BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 34399712)

  • 1. A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.
    Li WN; Du XJ; Zhang YT; Wang LY; Zhu J
    BMC Ophthalmol; 2021 Aug; 21(1):302. PubMed ID: 34399712
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
    Gan L; Yang C; Shu Y; Liu F; Sun R; Deng B; Xu J; Huang G; Qu C; Gong B; Li J
    Clin Chim Acta; 2020 Aug; 507():17-22. PubMed ID: 32277948
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
    Katagiri S; Hayashi T; Mizobuchi K; Yoshitake K; Iwata T; Nakano T
    Ophthalmic Genet; 2018 Jun; 39(3):357-365. PubMed ID: 29630435
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.
    Fakin A; Zupan A; Glavač D; Hawlina M
    Vision Res; 2012 Dec; 75():71-6. PubMed ID: 22842402
    [TBL] [Abstract][Full Text] [Related]  

  • 5. High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
    Manes G; Guillaumie T; Vos WL; Devos A; Audo I; Zeitz C; Marquette V; Zanlonghi X; Defoort-Dhellemmes S; Puech B; Said SM; Sahel JA; Odent S; Dollfus H; Kaplan J; Dufier JL; Le Meur G; Weber M; Faivre L; Cohen FB; Béroud C; Picot MC; Verdier C; Sénéchal A; Baudoin C; Bocquet B; Findlay JB; Meunier I; Dhaenens CM; Hamel CP
    Am J Ophthalmol; 2015 Feb; 159(2):302-14. PubMed ID: 25447119
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa.
    Liu X; Li J; Lin S; Xiao X; Luo J; Wei W; Ling Y; Fang L; Xiao H; Chen L; Huang J; Zhong Y; Zhang Q
    Exp Eye Res; 2020 Aug; 197():108118. PubMed ID: 32562694
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
    Wang DD; Gao FJ; Hu FY; Cao WJ; Xu P; Huang Y; Sun XH; Wu JH
    Curr Eye Res; 2022 Sep; 47(9):1339-1345. PubMed ID: 35924323
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
    Xiang Q; Guo Y; Cao Y; Xiong W; Deng X; Xu H; Li Y; Du D; Deng H
    Optom Vis Sci; 2018 Dec; 95(12):1155-1161. PubMed ID: 30451805
    [TBL] [Abstract][Full Text] [Related]  

  • 9. NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in
    Strafella C; Caputo V; Pagliaroli G; Iozzo N; Campoli G; Carboni S; Peconi C; Galota RM; Zampatti S; Minozzi G; Novelli G; Giardina E; Cascella R
    Genes (Basel); 2019 Oct; 10(10):. PubMed ID: 31614793
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
    Fishman GA; Stone E; Gilbert LD; Vandenburgh K; Sheffield VC; Heckenlively JR
    Ophthalmology; 1994 Aug; 101(8):1409-21. PubMed ID: 8058286
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel MERTK mutation causing retinitis pigmentosa.
    Al-Khersan H; Shah KP; Jung SC; Rodriguez A; Madduri RK; Grassi MA
    Graefes Arch Clin Exp Ophthalmol; 2017 Aug; 255(8):1613-1619. PubMed ID: 28462455
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
    Huang L; Zhang Q; Huang X; Qu C; Ma S; Mao Y; Yang J; Li Y; Li Y; Tan C; Zhao P; Yang Z
    Sci Rep; 2017 May; 7(1):1948. PubMed ID: 28512305
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X; Li X; Tian W; Yang Y; Sun K; Li S; Zhu X
    Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.
    Cheng J; Fu J; Zhou Q; Xiang X; Wei C; Yang L; Fu S; Khan MA; Lv H; Fu J
    J Cell Mol Med; 2019 May; 23(5):3776-3780. PubMed ID: 30892800
    [No Abstract]   [Full Text] [Related]  

  • 16. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa.
    Xiang F; Yan M; Song G; Zheng F
    Genetika; 2012 Jan; 48(1):125-9. PubMed ID: 22567862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.
    Lei Z; He-Lin Z; Hai-Yan W; Wei J; Ru W; Zhi-Li C; Qian-Feng W
    Mol Genet Genomic Med; 2024 Jun; 12(6):e2481. PubMed ID: 38867642
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U; Ponjavic V; Abrahamson M; Nilsson-Ehle P; Andrëasson S; Stenström I; Ehinger B
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations.
    Zhu Y; Tan H; Zeng J; Tao D; Ma Y; Liu Y
    Genes Genomics; 2019 Mar; 41(3):359-366. PubMed ID: 30460480
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.