BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

324 related articles for article (PubMed ID: 27160240)

  • 21. Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene.
    Satomura A; Fujita T; Nakayama T; Kusano H; Takayama E; Hamada H; Maruyama T
    Intern Med; 2015; 54(14):1819-24. PubMed ID: 26179544
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
    Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
    Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
    Wang RY; Abe JT; Cohen AH; Wilcox WR
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S369-74. PubMed ID: 18937048
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
    Yoshimitsu M; Higuchi K; Miyata M; Devine S; Mattman A; Sirrs S; Medin JA; Tei C; Takenaka T
    J Cardiol; 2011 May; 57(3):345-53. PubMed ID: 21333496
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.
    Terryn W; Deschoenmakere G; De Keyser J; Meersseman W; Van Biesen W; Wuyts B; Hemelsoet D; Pascale H; De Backer J; De Paepe A; Poppe B; Vanholder R
    Int J Cardiol; 2013 Sep; 167(6):2555-60. PubMed ID: 22805550
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
    Zhou C; Huang J; Cui G; Zeng H; Wang DW; Zhou Q
    BMC Med Genet; 2018 Dec; 19(1):219. PubMed ID: 30587147
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
    Takahashi N; Yokoi S; Kasuno K; Kogami A; Tsukimura T; Togawa T; Saito S; Ohno K; Hara M; Kurosawa H; Hirayama Y; Kurose T; Yokoyama Y; Mikami D; Kimura H; Naiki H; Sakuraba H; Iwano M
    Clin Nephrol; 2015 May; 83(5):301-8. PubMed ID: 25295576
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.
    Chimenti C; Pieroni M; Morgante E; Antuzzi D; Russo A; Russo MA; Maseri A; Frustaci A
    Circulation; 2004 Aug; 110(9):1047-53. PubMed ID: 15313943
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Generation of Fabry cardiomyopathy model for drug screening using induced pluripotent stem cell-derived cardiomyocytes from a female Fabry patient.
    Kuramoto Y; Naito AT; Tojo H; Sakai T; Ito M; Shibamoto M; Nakagawa A; Higo T; Okada K; Yamaguchi T; Lee JK; Miyagawa S; Sawa Y; Sakata Y; Komuro I
    J Mol Cell Cardiol; 2018 Aug; 121():256-265. PubMed ID: 30048710
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.
    Ntusi NA; Shaboodien G; Badri M; Gumedze F; Mayosi BM
    Cardiovasc J Afr; 2016; 27(3):152-158. PubMed ID: 27841901
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
    Choi JS; Kim CS; Park JW; Bae EH; Ma SK; Choi YD; Kim GH; Yoo HW; Kim SW
    Ren Fail; 2012; 34(3):390-3. PubMed ID: 22260214
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.
    Adalsteinsdottir B; Palsson R; Desnick RJ; Gardarsdottir M; Teekakirikul P; Maron M; Appelbaum E; Neisius U; Maron BJ; Burke MA; Chen B; Pagant S; Madsen CV; Danielsen R; Arngrimsson R; Feldt-Rasmussen U; Seidman JG; Seidman CE; Gunnarsson GT
    Circ Cardiovasc Genet; 2017 Aug; 10(4):. PubMed ID: 28798024
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Fabry disease in patients with hypertrophic cardiomyopathy (HCM).
    Beer G; Reinecke P; Gabbert HE; Hort W; Kuhn H
    Z Kardiol; 2002 Dec; 91(12):992-1002. PubMed ID: 12490989
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
    Rohard I; Schaefer E; Kampmann C; Beck M; Gal A
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S349-56. PubMed ID: 18941922
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
    Pieroni M; Chimenti C; Ricci R; Sale P; Russo MA; Frustaci A
    Circulation; 2003 Apr; 107(15):1978-84. PubMed ID: 12668521
    [TBL] [Abstract][Full Text] [Related]  

  • 37. First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.
    Greillier S; Daniel L; Caillaud C; Dussol B; Touchard G; Goujon JM; Jourde-Chiche N; Bobot M
    BMC Med Genet; 2020 Jun; 21(1):137. PubMed ID: 32590976
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.
    Odani K; Okumi M; Honda K; Ishida H; Tanabe K
    Nephrology (Carlton); 2016 Jul; 21 Suppl 1():57-9. PubMed ID: 26971403
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
    Veloso VSP; Ataides TL; Canziani MEF; Veloso MP; da Silva NA; Barreto DV; Pereira ERS; de Moura LAR; Barreto FC
    Nephron; 2018; 138(2):147-156. PubMed ID: 28892806
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.
    Kikumoto Y; Sugiyama H; Morinaga H; Inoue T; Takiue K; Kitagawa M; Saito D; Takatori Y; Kinomura M; Kitamura S; Akagi S; Sada K; Nakao K; Maeshima Y; Kitayama H; Makino H
    Clin Nephrol; 2012 Sep; 78(3):224-9. PubMed ID: 22874111
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.