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 *

280 related articles for article (PubMed ID: 29794742)

  • 21. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
    Niemann M; Rolfs A; Störk S; Bijnens B; Breunig F; Beer M; Ertl G; Wanner C; Weidemann F
    Circ Cardiovasc Genet; 2014 Feb; 7(1):8-16. PubMed ID: 24395922
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The mutation p.D313Y is associated with organ manifestation in Fabry disease.
    du Moulin M; Koehn AF; Golsari A; Dulz S; Atiskova Y; Patten M; Münch J; Avanesov M; Ullrich K; Muschol N
    Clin Genet; 2017 Nov; 92(5):528-533. PubMed ID: 28276057
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
    Lukas J; Scalia S; Eichler S; Pockrandt AM; Dehn N; Cozma C; Giese AK; Rolfs A
    Hum Mutat; 2016 Jan; 37(1):43-51. PubMed ID: 26415523
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
    Savostyanov K; Pushkov A; Zhanin I; Mazanova N; Pakhomov A; Trufanova E; Alexeeva A; Sladkov D; Kuzenkova L; Asanov A; Fisenko A
    Genes (Basel); 2023 Oct; 14(11):. PubMed ID: 38002959
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Globotriaosylsphingosine (Lyso-Gb
    Alharbi FJ; Baig S; Auray-Blais C; Boutin M; Ward DG; Wheeldon N; Steed R; Dawson C; Hughes D; Geberhiwot T
    J Inherit Metab Dis; 2018 Mar; 41(2):239-247. PubMed ID: 29294190
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Fabry disease due to D313Y and novel GLA mutations.
    Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
    BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).
    Lau K; Üçeyler N; Cairns T; Lorenz L; Sommer C; Schindehütte M; Amann K; Wanner C; Nordbeck P
    Mol Genet Genomic Med; 2022 May; 10(5):e1912. PubMed ID: 35212486
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Anderson-Fabry disease: a multiorgan disease.
    Tuttolomondo A; Pecoraro R; Simonetta I; Miceli S; Pinto A; Licata G
    Curr Pharm Des; 2013; 19(33):5974-96. PubMed ID: 23448451
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
    Zemánek D; Januška J; Honěk T; Čurila K; Kubánek M; Šindelářová Š; Zahálková L; Klofáč P; Laštůvková E; Lichnerová E; Aiglová R; Lhotský J; Vondrák J; Dostálová G; Táborský M; Kasper D; Linhart A
    ESC Heart Fail; 2022 Dec; 9(6):4160-4166. PubMed ID: 36087038
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
    Favalli V; Disabella E; Molinaro M; Tagliani M; Scarabotto A; Serio A; Grasso M; Narula N; Giorgianni C; Caspani C; Concardi M; Agozzino M; Giordano C; Smirnova A; Kodama T; Giuliani L; Antoniazzi E; Borroni RG; Vassallo C; Mangione F; Scelsi L; Ghio S; Pellegrini C; Zedde M; Fancellu L; Sechi G; Ganau A; Piga S; Colucci A; Concolino D; Di Mascio MT; Toni D; Diomedi M; Rapezzi C; Biagini E; Marini M; Rasura M; Melis M; Nucera A; Guidetti D; Mancuso M; Scoditti U; Cassini P; Narula J; Tavazzi L; Arbustini E
    J Am Coll Cardiol; 2016 Sep; 68(10):1037-50. PubMed ID: 27585509
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.
    Oliveira JP; Ferreira S; Reguenga C; Carvalho F; Månsson JE
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S405-13. PubMed ID: 18979178
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.
    Rickert V; Wagenhäuser L; Nordbeck P; Wanner C; Sommer C; Rost S; Üçeyler N
    J Intern Med; 2020 Nov; 288(5):593-604. PubMed ID: 32583479
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.
    Seo J; Kim M; Hong GR; Kim DS; Son JW; Cho IJ; Shim CY; Chang HJ; Ha JW; Chung N
    J Hum Genet; 2016 Sep; 61(9):775-80. PubMed ID: 27225851
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.
    Gago MF; Azevedo O; Guimarães A; Teresa Vide A; Lamas NJ; Oliveira TG; Gaspar P; Bicho E; Miltenberger-Miltenyi G; Ferreira J; Sousa N
    J Parkinsons Dis; 2020; 10(1):141-152. PubMed ID: 31594250
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
    Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
    Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
    Azevedo O; Gal A; Faria R; Gaspar P; Miltenberger-Miltenyi G; Gago MF; Dias F; Martins A; Rodrigues J; Reimão P; Pereira O; Simões S; Lopes E; Guimarães MJ; Sousa N; Cunha D
    Mol Genet Metab; 2020 Feb; 129(2):150-160. PubMed ID: 31519519
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
    Talbot A; Nicholls K; Fletcher JM; Fuller M
    Mol Genet Metab; 2017 Sep; 122(1-2):121-125. PubMed ID: 28847675
    [TBL] [Abstract][Full Text] [Related]  

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