BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 28275245)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
    Romani I; Sarti C; Nencini P; Pracucci G; Zedde M; Cianci V; Nucera A; Moller J; Orsucci D; Toni D; Palumbo P; Casella C; Pinto V; Barbarini L; Bella R; Scoditti U; Ragno M; Mezzapesa DM; Tassi R; Volpi G; Diomedi M; Bigliardi G; Cavallini AM; Chiti A; Ricci S; Cecconi E; Linoli G; Sacco S; Rasura M; Giordano A; Bonetti B; Melis M; Cariddi LP; Dossi RC; Grisendi I; Aguglia U; Di Ruzza MR; Melis M; Sbardella E; Vista M; Valenti R; Musolino RF; Passarella B; Direnzo V; Pennisi G; Genovese A; Di Marzio F; Sgobio R; Acampa M; Nannucci S; Dagostino F; Dell'Acqua ML; Cuzzoni MG; Picchioni A; Calchetti B; Notturno F; Di Lisi F; Forlivesi S; Delodovici ML; Buechner SC; Biagini S; Accavone D; Manna R; Morrone A; Inzitari D
    J Neurol Sci; 2024 Feb; 457():122905. PubMed ID: 38295534
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Nationwide screening for Fabry disease in unselected stroke patients.
    Tomek A; Petra R; Paulasová Schwabová J; Olšerová A; Škorňa M; Nevšímalová M; Šimůnek L; Herzig R; Fafejtová Š; Mikulenka P; Táboříková A; Neumann J; Brzezny R; Sobolová H; Bartoník J; Václavík D; Vachová M; Bechyně K; Havlíková H; Prax T; Šaňák D; Černíková I; Ondečková I; Procházka P; Rajner J; Škoda M; Novák J; Škoda O; Bar M; Mikulík R; Dostálová G; Linhart A;
    PLoS One; 2021; 16(12):e0260601. PubMed ID: 34905550
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
    Baptista MV; Ferreira S; Pinho-E-Melo T; Carvalho M; Cruz VT; Carmona C; Silva FA; Tuna A; Rodrigues M; Ferreira C; Pinto AA; Leitão A; Gabriel JP; Calado S; Oliveira JP; Ferro JM;
    Stroke; 2010 Mar; 41(3):431-6. PubMed ID: 20110537
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
    Park JY; Kim GH; Kim SS; Ko JM; Lee JJ; Yoo HW
    Exp Mol Med; 2009 Jan; 41(1):1-7. PubMed ID: 19287194
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.
    Kinoshita N; Hosomi N; Matsushima H; Nakamori M; Yagita Y; Yamawaki T; Torii T; Kitamura T; Sueda Y; Shimomura R; Araki M; Nezu T; Aoki S; Ishii S; Maruyama H; Matsumoto M; Maruyama H
    J Stroke Cerebrovasc Dis; 2018 Dec; 27(12):3563-3569. PubMed ID: 30201457
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
    Song X; Xue S; Zhao J; Wu J
    Int J Neurosci; 2017 Apr; 127(4):350-355. PubMed ID: 26981927
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].
    Ge ZH; Lu ZH; Pan XD; Lai TT; Yang MJ; Yang HQ; Zhang HB; Li GY; Dai ZQ; Mao JH
    Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):345-350. PubMed ID: 38527505
    [No Abstract]   [Full Text] [Related]  

  • 16. Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
    Chong Y; Kim M; Koh ES; Shin SJ; Kim HS; Chung S
    BMC Med Genet; 2016 Oct; 17(1):76. PubMed ID: 27776503
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.
    Dubuc V; Moore DF; Gioia LC; Saposnik G; Selchen D; Lanthier S
    J Stroke Cerebrovasc Dis; 2013 Nov; 22(8):1288-92. PubMed ID: 23168217
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.
    Nishino T; Obata Y; Furusu A; Hirose M; Shinzato K; Hattori K; Nakamura K; Matsumoto T; Endo F; Kohno S
    Ren Fail; 2012; 34(5):566-70. PubMed ID: 22563919
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
    Nakagawa N; Sawada J; Sakamoto N; Takeuchi T; Takahashi F; Maruyama JI; Momosaki K; Nakamura K; Endo F; Hasebe N
    J Hum Genet; 2019 Sep; 64(9):891-898. PubMed ID: 31213654
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
    Lin HY; Chong KW; Hsu JH; Yu HC; Shih CC; Huang CH; Lin SJ; Chen CH; Chiang CC; Ho HJ; Lee PC; Kao CH; Cheng KH; Hsueh C; Niu DM
    Circ Cardiovasc Genet; 2009 Oct; 2(5):450-6. PubMed ID: 20031620
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.