BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

409 related articles for article (PubMed ID: 27160240)

  • 1. Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.
    Oikawa M; Sakamoto N; Kobayashi A; Suzuki S; Yoshihisa A; Yamaki T; Nakazato K; Suzuki H; Saitoh S; Kiko Y; Nakano H; Hayashi T; Kimura A; Takeishi Y
    BMC Cardiovasc Disord; 2016 May; 16():83. PubMed ID: 27160240
    [TBL] [Abstract][Full Text] [Related]  

  • 2. No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.
    Kobayashi M; Ohashi T; Fukuda T; Yanagisawa T; Inomata T; Nagaoka T; Kitagawa T; Eto Y; Ida H; Kusano E
    Mol Genet Metab; 2012 Dec; 107(4):711-5. PubMed ID: 23146289
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.
    Togawa T; Tsukimura T; Kodama T; Tanaka T; Kawashima I; Saito S; Ohno K; Fukushige T; Kanekura T; Satomura A; Kang DH; Lee BH; Yoo HW; Doi K; Noiri E; Sakuraba H
    Mol Genet Metab; 2012 Apr; 105(4):615-20. PubMed ID: 22305854
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
    Lee BH; Heo SH; Kim GH; Park JY; Kim WS; Kang DH; Choe KH; Kim WH; Yang SH; Yoo HW
    J Hum Genet; 2010 Aug; 55(8):512-7. PubMed ID: 20505683
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
    Csányi B; Hategan L; Nagy V; Obál I; Varga ET; Borbás J; Tringer A; Eichler S; Forster T; Rolfs A; Sepp R
    Int Heart J; 2017 May; 58(3):454-458. PubMed ID: 28496025
    [TBL] [Abstract][Full Text] [Related]  

  • 6. α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
    Oder D; Liu D; Hu K; Üçeyler N; Salinger T; Müntze J; Lorenz K; Kandolf R; Gröne HJ; Sommer C; Ertl G; Wanner C; Nordbeck P
    Circ Cardiovasc Genet; 2017 Oct; 10(5):. PubMed ID: 29018006
    [TBL] [Abstract][Full Text] [Related]  

  • 7. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
    Chaves-Markman ÂV; Markman M; Calado EB; Pires RF; Santos-Veloso MAO; Pereira CMF; Lordsleem ABMDS; Lima SG; Markman Filho B; Oliveira DC
    Arq Bras Cardiol; 2019 Jul; 113(1):77-84. PubMed ID: 31291414
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).
    Nakagawa N; Maruyama H; Ishihara T; Seino U; Kawabe J; Takahashi F; Kobayashi M; Yamauchi A; Sasaki Y; Sakamoto N; Ota H; Tanabe Y; Takeuchi T; Takenaka T; Kikuchi K; Hasebe N
    Int Heart J; 2011; 52(5):308-11. PubMed ID: 22008442
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
    Maron MS; Xin W; Sims KB; Butler R; Haas TS; Rowin EJ; Desnick RJ; Maron BJ
    Am J Med; 2018 Feb; 131(2):200.e1-200.e8. PubMed ID: 28943383
    [TBL] [Abstract][Full Text] [Related]  

  • 10. GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.
    Peng H; Xu X; Zhang L; Zhang X; Peng H; Zheng Y; Luo S; Guo H; Xia K; Li J; Yao H; Hu Z
    Gene; 2016 Jan; 575(2 Pt 1):363-7. PubMed ID: 26456105
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P.
    Fukutomi M; Tanaka N; Uchinoumi H; Kanemoto M; Nakao F; Yamada J; Kamei T; Takenaka T; Fujii T
    J Cardiol; 2013 Jul; 62(1):63-9. PubMed ID: 23608164
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
    Pisani A; Imbriaco M; Zizzo C; Albeggiani G; Colomba P; Alessandro R; Iemolo F; Duro G
    BMC Cardiovasc Disord; 2012 Jun; 12():39. PubMed ID: 22682330
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
    Smid BE; Hollak CE; Poorthuis BJ; van den Bergh Weerman MA; Florquin S; Kok WE; Lekanne Deprez RH; Timmermans J; Linthorst GE
    Clin Genet; 2015 Aug; 88(2):161-6. PubMed ID: 25040344
    [TBL] [Abstract][Full Text] [Related]  

  • 14. p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.
    Nakamura K; Sekijima Y; Nakamura K; Hattori K; Nagamatsu K; Shimizu Y; Yazaki M; Sakurai A; Endo F; Fukushima Y; Ikeda SI
    Eur J Neurol; 2014; 21(1):49-56. PubMed ID: 23724928
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.
    Frustaci A; De Luca A; Guida V; Biagini T; Mazza T; Gaudio C; Letizia C; Russo MA; Galea N; Chimenti C
    J Am Heart Assoc; 2018 Feb; 7(4):. PubMed ID: 29440008
    [TBL] [Abstract][Full Text] [Related]  

  • 16. High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.
    Doi K; Noiri E; Ishizu T; Negishi K; Suzuki Y; Hamasaki Y; Honda K; Fujita T; Tsukimura T; Togawa T; Saito S; Sakuraba H
    J Hum Genet; 2012 Sep; 57(9):575-9. PubMed ID: 22695894
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypertrophic obstructive cardiomyopathy caused by Fabry disease: implications for surgical myectomy.
    Frustaci A; Borghetti V; Pentiricci S; Verardo R; Scialla R; Russo MA
    ESC Heart Fail; 2023 Dec; 10(6):3710-3713. PubMed ID: 37715354
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.
    Caetano F; Botelho A; Mota P; Silva J; Leitão Marques A
    Rev Port Cardiol; 2014 Mar; 33(3):183.e1-5. PubMed ID: 24661928
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cardiomyopathy associated with the Ala143Thr variant of the
    Valtola K; Nino-Quintero J; Hedman M; Lottonen-Raikaslehto L; Laitinen T; Maria M; Kantola I; Naukkarinen A; Laakso M; Kuusisto J
    Heart; 2020 Apr; 106(8):609-615. PubMed ID: 31949022
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.
    Nagamatsu K; Sekijima Y; Nakamura K; Nakamura K; Hattori K; Ota M; Shimizu Y; Endo F; Ikeda SI
    J Hum Genet; 2017 Jul; 62(7):665-670. PubMed ID: 28275245
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.