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 *

209 related articles for article (PubMed ID: 22551898)

  • 1. New mutations in the GLA gene in Brazilian families with Fabry disease.
    Turaça LT; Pessoa JG; Motta FL; Muñoz Rojas MV; Müller KB; Lourenço CM; Junior Marques W; D'Almeida V; Martins AM; Pesquero JB
    J Hum Genet; 2012 Jun; 57(6):347-51. PubMed ID: 22551898
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
    Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
    J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM; Desnick RJ
    Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
    Rodríguez-Marí A; Coll MJ; Chabás A
    Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
    Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
    Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
    Colomba P; Nucera A; Zizzo C; Albeggiani G; Francofonte D; Iemolo F; Tuttolomondo A; Pinto A; Duro G
    Clin Biochem; 2012 Jul; 45(10-11):839-41. PubMed ID: 22465271
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
    Tuttolomondo A; Duro G; Miceli S; Di Raimondo D; Pecoraro R; Serio A; Albeggiani G; Nuzzo D; Iemolo F; Pizzo F; Sciarrino S; Licata G; Pinto A
    Clin Biochem; 2012 Nov; 45(16-17):1525-30. PubMed ID: 22820434
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.
    Dobrovolny R; Nazarenko I; Kim J; Doheny D; Desnick RJ
    Hum Mutat; 2011 Jun; 32(6):688-95. PubMed ID: 21305660
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Fabry disease: 20 novel GLA mutations in 35 families.
    Blaydon D; Hill J; Winchester B
    Hum Mutat; 2001 Nov; 18(5):459. PubMed ID: 11668641
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fabry disease in patients with end-stage renal failure: the potential benefits of screening.
    Bekri S; Enica A; Ghafari T; Plaza G; Champenois I; Choukroun G; Unwin R; Jaeger P
    Nephron Clin Pract; 2005; 101(1):c33-8. PubMed ID: 15886492
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
    Eng CM; Ashley GA; Burgert TS; Enriquez AL; D'Souza M; Desnick RJ
    Mol Med; 1997 Mar; 3(3):174-82. PubMed ID: 9100224
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
    Sakuraba H
    Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.