BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 29491734)

  • 1. Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
    Wu Y; Xia H; Yuan J; Xu H; Deng X; Liu J; Zhang H; Deng H
    Curr Genomics; 2018 Jan; 19(1):70-75. PubMed ID: 29491734
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.
    Dong ZY; Wang Q; Lin SP; Chen P; Liu JN; Liu SW; Cai GY; Chen XM; Hong Q
    Ann Transl Med; 2020 Jul; 8(14):865. PubMed ID: 32793709
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
    Dai X; Zong X; Pan X; Lu W; Jiang GR; Lin F
    Orphanet J Rare Dis; 2022 Jun; 17(1):237. PubMed ID: 35725559
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Anderson-Fabry disease: a multiorgan disease.
    Tuttolomondo A; Pecoraro R; Simonetta I; Miceli S; Pinto A; Licata G
    Curr Pharm Des; 2013; 19(33):5974-96. PubMed ID: 23448451
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
    Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
    Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
    Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
    Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.
    Chen X; Li H; Liao H; Zhan X; Zhong Z; Zhang Q; Liu L; Liang Y; Deng H; Fang X; Xue Y; Wu S; Liu Y
    ESC Heart Fail; 2021 Dec; 8(6):5436-5444. PubMed ID: 34704396
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New mutation in Fabry disease: c.448delG, first phenotypic description.
    Calabrese E; Rodriguez Botta G; Rosenfeld DP
    Mol Genet Metab Rep; 2021 Jun; 27():100708. PubMed ID: 33732617
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
    Varela P; Mastroianni Kirsztajn G; Ferrer H; Aranda C; Wallbach K; Ferreira da Mata G; Moura LA; Moreira SR; Mendes C; Curiati MA; Martins AM; Bosco Pesquero J
    Nephron; 2020; 144(3):147-155. PubMed ID: 31665721
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational analysis of the GLA gene in Mexican families with Fabry disease.
    Gutiérrez-Amavizca BE; Gal A; Ortíz-Orozco R; Orth U; Prado Montes De Oca E; Gutiérrez-Amavizca JP; Figuera LE
    J Genet; 2017 Mar; 96(1):161-164. PubMed ID: 28360401
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
    Ferreira S; Ortiz A; Germain DP; Viana-Baptista M; Caldeira-Gomes A; Camprecios M; Fenollar-Cortés M; Gallegos-Villalobos Á; Garcia D; García-Robles JA; Egido J; Gutiérrez-Rivas E; Herrero JA; Mas S; Oancea R; Péres P; Salazar-Martín LM; Solera-Garcia J; Alves H; Garman SC; Oliveira JP
    Mol Genet Metab; 2015 Feb; 114(2):248-58. PubMed ID: 25468652
    [TBL] [Abstract][Full Text] [Related]  

  • 12. c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
    Riillo C; Bonapace G; Moricca MT; Sestito S; Salatino A; Concolino D
    Mol Genet Metab; 2023 Nov; 140(3):107700. PubMed ID: 37774431
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
    De Brabander I; Yperzeele L; Ceuterick-De Groote C; Brouns R; Baker R; Belachew S; Delbecq J; De Keulenaer G; Dethy S; Eyskens F; Fumal A; Hemelsoet D; Hughes D; Jeangette S; Nuytten D; Redondo P; Sadzot B; Sindic C; Sheorajpanday R; Thijs V; Van Broeckhoven C; De Deyn PP
    Clin Neurol Neurosurg; 2013 Jul; 115(7):1088-93. PubMed ID: 23219219
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.
    Onay H; Bolat H; Kılıç Yıldırım G; Kose E; Kalkan Uçar S; Aşıkovalı S; Özkınay F; Çoker M
    J Pediatr Endocrinol Metab; 2020 Aug; 33(10):1245-1250. PubMed ID: 32813676
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional evaluation of a novel GLA causative mutation in Fabry disease.
    Li P; Zhang L; Xiong Q; Wang Z; Cui X; Zhou YA; Wang Y; Xiao H; Wu C
    Mol Genet Genomic Med; 2019 Sep; 7(9):e864. PubMed ID: 31321922
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.
    Silva CA; Barreto FC; Dos Reis MA; Moura Junior JA; Cruz CM
    Nephron; 2016; 134(4):221-230. PubMed ID: 27576502
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
    Verrecchia E; Zampetti A; Antuzzi D; Ricci R; Ferri L; Morrone A; Feliciani C; Dagna L; Manna R
    Eur J Intern Med; 2016 Jul; 32():26-30. PubMed ID: 27083555
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
    Rosa Neto NS; Bento JCB; Pereira RMR
    Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.
    Luo Y; Wu D; Shen M
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1454. PubMed ID: 32797665
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fabry disease due to D313Y and novel GLA mutations.
    Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
    BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.