BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

821 related articles for article (PubMed ID: 15712228)

  • 1. 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]  

  • 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. 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]  

  • 4. Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
    Kasper DC; Iqbal F; Dvorakova L; Zeman J; Magner M; Bodamer O; Pollak A; Herkner KR; Item CB
    Clin Chim Acta; 2010 Mar; 411(5-6):345-50. PubMed ID: 19954743
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

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

  • 7. 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]  

  • 8. 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]  

  • 9. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
    Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
    Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
    [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. 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]  

  • 12. NF1 gene analysis based on DHPLC.
    De Luca A; Buccino A; Gianni D; Mangino M; Giustini S; Richetta A; Divona L; Calvieri S; Mingarelli R; Dallapiccola B
    Hum Mutat; 2003 Feb; 21(2):171-2. PubMed ID: 12552569
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
    Froissart R; Guffon N; Vanier MT; Desnick RJ; Maire I
    Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
    László A; Török L; Raffai S; Török E; Sallay E; Endreffy E; Morvai L; van Amstel JK
    Ideggyogy Sz; 2012 Jan; 65(1-2):35-9. PubMed ID: 22338844
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of denaturing high-performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall-cell lung cancer.
    Cohen V; Agulnik JS; Jarry J; Batist G; Small D; Kreisman H; Tejada NA; Miller WH; Chong G
    Cancer; 2006 Dec; 107(12):2858-65. PubMed ID: 17096434
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
    Posteraro P; Pascucci M; Colombi M; Barlati S; Giannetti A; Paradisi M; Mustonen A; Zambruno G; Castiglia D
    Biochem Biophys Res Commun; 2005 Dec; 338(3):1391-401. PubMed ID: 16271705
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease.
    Grimes DA; Han F; Panisset M; Racacho L; Xiao F; Zou R; Westaff K; Bulman DE
    Mov Disord; 2006 Jul; 21(7):906-9. PubMed ID: 16532445
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
    Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
    Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.
    Crépin M; Pigny P; Escande F; Bauters CC; Calender A; Lefevre S; Buisine MP; Porchet N; Odou MF
    J Mol Endocrinol; 2006 Apr; 36(2):369-76. PubMed ID: 16595707
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
    Celtikci B; Topçu M; Ozkara HA
    Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 42.