BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 26456105)

  • 41. Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
    Ferri L; Malesci D; Fioravanti A; Bagordo G; Filippini A; Ficcadenti A; Manna R; Antuzzi D; Verrecchia E; Donati I; Mignani R; Cavicchi C; Guerrini R; Morrone A
    Clin Chim Acta; 2018 Jun; 481():25-33. PubMed ID: 29476735
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Maternal germline mosaicism in Fabry disease.
    Pianese L; Fortunato A; Silvestri S; Solano FG; Burlina A; Burlina AP; Ragno M
    Neurol Sci; 2019 Jun; 40(6):1279-1281. PubMed ID: 30762167
    [TBL] [Abstract][Full Text] [Related]  

  • 44. The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.
    Savostyanov K; Pushkov A; Zhanin I; Mazanova N; Trufanov S; Pakhomov A; Alexeeva A; Sladkov D; Asanov A; Fisenko A
    Orphanet J Rare Dis; 2022 May; 17(1):199. PubMed ID: 35578305
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Functional studies of new GLA gene mutations leading to conformational Fabry disease.
    Filoni C; Caciotti A; Carraresi L; Cavicchi C; Parini R; Antuzzi D; Zampetti A; Feriozzi S; Poisetti P; Garman SC; Guerrini R; Zammarchi E; Donati MA; Morrone A
    Biochim Biophys Acta; 2010 Feb; 1802(2):247-52. PubMed ID: 19941952
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Clinical, histological and molecular characteristics of Mexican patients with Fabry disease and significant renal involvement.
    Ramos-Kuri M; Olvera D; Morales JJ; Rodriguez-Espino BA; Lara-Mejía A; De Los Ríos D; Obrador GT; Granados J; Correa-Rotter R
    Arch Med Res; 2014 Apr; 45(3):257-62. PubMed ID: 24656905
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Fabry disease screening in high-risk populations in Japan: a nationwide study.
    Yoshida S; Kido J; Sawada T; Momosaki K; Sugawara K; Matsumoto S; Endo F; Nakamura K
    Orphanet J Rare Dis; 2020 Aug; 15(1):220. PubMed ID: 32843101
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.
    Varela P; Carvalho G; Martin RP; Pesquero JB
    Metab Brain Dis; 2021 Feb; 36(2):265-272. PubMed ID: 33156427
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
    Pisani A; Visciano B; Russo R; Mozzillo GR; Porto C; De Maggio I; Russo R; Pontarelli G; Villani GR; Cianciaruso B; Di Natale P
    J Nephrol; 2012; 25(4):582-5. PubMed ID: 22307442
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
    Ge W; Wei B; Zhu H; Miao Z; Zhang W; Leng C; Li J; Zhang D; Sun M; Xu X
    Int J Neurosci; 2017 May; 127(5):448-453. PubMed ID: 27211852
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
    Rossanti R; Nozu K; Fukunaga A; Nagano C; Horinouchi T; Yamamura T; Sakakibara N; Minamikawa S; Ishiko S; Aoto Y; Okada E; Ninchoji T; Kato N; Maruyama S; Kono K; Nishi S; Iijima K; Fujii H
    Clin Exp Nephrol; 2021 Nov; 25(11):1224-1230. PubMed ID: 34128148
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Identification of mutations in Colombian patients affected with Fabry disease.
    Uribe A; Mateus HE; Prieto JC; Palacios MF; Ospina SY; Pasqualim G; da Silveira Matte U; Giugliani R
    Gene; 2015 Dec; 574(2):325-9. PubMed ID: 26297554
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. [Two novel mutations of GLA gene in Chinese patients with Fabry disease].
    An GP; An FS; Zhang Y; Zou YX; Zhang C; Jiang H; Feng JB; Wang R
    Zhonghua Xin Xue Guan Bing Za Zhi; 2007 Mar; 35(3):212-5. PubMed ID: 17582282
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
    Gervas-Arruga J; Cebolla JJ; Irun P; Perez-Lopez J; Plaza L; Roche JC; Capablo JL; Rodriguez-Rey JC; Pocovi M; Giraldo P
    BMC Genet; 2015 Sep; 16():109. PubMed ID: 26334996
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Genetic and clinical study of three Chinese pedigrees with Fabry disease].
    Tian ML; Yan YL; Xiong JC; Liu XX; Yang Y; Hu ZX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):185-8. PubMed ID: 23568732
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].
    Meng Y; Zhang WM; Shi HP; Wei M; Huang SZ
    Zhonghua Yi Xue Za Zhi; 2010 Mar; 90(8):551-4. PubMed ID: 20367968
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.