BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

390 related articles for article (PubMed ID: 16595074)

  • 1. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
    Shabbeer J; Yasuda M; Benson SD; Desnick RJ
    Hum Genomics; 2006 Mar; 2(5):297-309. PubMed ID: 16595074
    [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. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
    Topaloglu AK; Ashley GA; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
    Mol Med; 1999 Dec; 5(12):806-11. PubMed ID: 10666480
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
    Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
    Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
    Ashley GA; Shabbeer J; Yasuda M; Eng CM; Desnick RJ
    J Hum Genet; 2001; 46(4):192-6. PubMed ID: 11322659
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
    Germain DP; Shabbeer J; Cotigny S; Desnick RJ
    Mol Med; 2002 Jun; 8(6):306-12. PubMed ID: 12428061
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
    Kornreich R; Bishop DF; Desnick RJ
    J Biol Chem; 1990 Jun; 265(16):9319-26. PubMed ID: 2160973
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
    Shabbeer J; Yasuda M; Luca E; Desnick RJ
    Mol Genet Metab; 2002 May; 76(1):23-30. PubMed ID: 12175777
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
    Eng CM; Niehaus DJ; Enriquez AL; Burgert TS; Ludman MD; Desnick RJ
    Hum Mol Genet; 1994 Oct; 3(10):1795-9. PubMed ID: 7531540
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
    Altarescu GM; Goldfarb LG; Park KY; Kaneski C; Jeffries N; Litvak S; Nagle JW; Schiffmann R
    Clin Genet; 2001 Jul; 60(1):46-51. PubMed ID: 11531969
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
    Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
    Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of four novel mutations in five unrelated Korean families with Fabry disease.
    Lee JK; Kim GH; Kim JS; Kim KK; Lee MC; Yoo HW
    Clin Genet; 2000 Sep; 58(3):228-33. PubMed ID: 11076046
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. High incidence of later-onset fabry disease revealed by newborn screening.
    Spada M; Pagliardini S; Yasuda M; Tukel T; Thiagarajan G; Sakuraba H; Ponzone A; Desnick RJ
    Am J Hum Genet; 2006 Jul; 79(1):31-40. PubMed ID: 16773563
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.