These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 34672003)

  • 1. Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.
    Harzer K; Beck-Wödl S; Haack TB
    J Cutan Pathol; 2022 Mar; 49(3):293-298. PubMed ID: 34672003
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach.
    Klug K; Spitzel M; Hans C; Klein A; Schottmann NM; Erbacher C; Üçeyler N
    Int J Mol Sci; 2023 Oct; 24(20):. PubMed ID: 37895103
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.
    Zhang R; Chen Z; Lang Y; Shao S; Cai Y; You Q; Sun Y; Wang S; Shi X; Liu Z; Guo W; Han Y; Shao L
    Ren Fail; 2020 Nov; 42(1):958-965. PubMed ID: 32924720
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.
    Čerkauskaitė A; Čerkauskienė R; Miglinas M; Laurinavičius A; Ding C; Rolfs A; Vencevičienė L; Barysienė J; Kazėnaitė E; Sadauskienė E
    Medicina (Kaunas); 2019 May; 55(5):. PubMed ID: 31067829
    [No Abstract]   [Full Text] [Related]  

  • 7. [Angiokeratoma corporis diffusum universale (Fabry disease)].
    Frank J; Jansen-Genzel W; Lentner A; Wienert V
    Hautarzt; 1996 Oct; 47(10):776-9. PubMed ID: 9036128
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mutation identification of Fabry disease in families with other lysosomal storage disorders.
    Zampetti A; Fania L; Antuzzi D; Giurdanella F; Gnarra M; Bertola F; Lualdi S; Filocamo M; Morrone A; Feliciani C
    Clin Genet; 2013 Sep; 84(3):281-5. PubMed ID: 23210910
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
    İnan R; Meşe M; Bicik Z
    Acta Neurol Belg; 2020 Dec; 120(6):1333-1339. PubMed ID: 30968323
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders.
    Calzavara-Pinton PG; Colombi M; Carlino A; Zane C; Gardella R; Clemente M; Facchetti F; Moro L; Zoppi N; Caimi L
    Arch Dermatol; 1995 Jan; 131(1):57-62. PubMed ID: 7826098
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pseudoacromegalic facial features in Fabry disease.
    Hogarth V; Hughes D; Orteu CH
    Clin Exp Dermatol; 2013 Mar; 38(2):137-9. PubMed ID: 22731890
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.