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 *

275 related articles for article (PubMed ID: 7911050)

  • 1. 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]  

  • 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: 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]  

  • 4. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
    Caggana M; Ashley GA; Desnick RJ; Eng CM
    Am J Med Genet; 1997 Aug; 71(3):329-35. PubMed ID: 9268104
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
    Kornreich R; Desnick RJ
    Hum Mutat; 1993; 2(2):108-11. PubMed ID: 8318986
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.