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625 related items for PubMed ID: 10916280

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 Jul; 46(4):192-6. PubMed ID: 11322659
    [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 Jul; 3(2):103-11. PubMed ID: 7911050
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

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

  • 6. 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
    [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
    [Abstract] [Full Text] [Related]

  • 8. 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 21; 257(3):708-13. PubMed ID: 10208848
    [Abstract] [Full Text] [Related]

  • 9. 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 21; 22(6):486-92. PubMed ID: 14635108
    [Abstract] [Full Text] [Related]

  • 10. 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 21; 3(3):174-82. PubMed ID: 9100224
    [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 21; 22(3):258. PubMed ID: 12938095
    [Abstract] [Full Text] [Related]

  • 12. 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 21; 53(6):1186-97. PubMed ID: 7504405
    [Abstract] [Full Text] [Related]

  • 13. 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 22; 71(3):329-35. PubMed ID: 9268104
    [Abstract] [Full Text] [Related]

  • 14. [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 22; 42(6):628-35. PubMed ID: 7914243
    [Abstract] [Full Text] [Related]

  • 15. Fabry disease: 20 novel GLA mutations in 35 families.
    Blaydon D, Hill J, Winchester B.
    Hum Mutat; 2001 Nov 22; 18(5):459. PubMed ID: 11668641
    [Abstract] [Full Text] [Related]

  • 16. 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 Nov 22; 11(4):328-30. PubMed ID: 9554750
    [Abstract] [Full Text] [Related]

  • 17. 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 22; 2(5):297-309. PubMed ID: 16595074
    [Abstract] [Full Text] [Related]

  • 18. 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 22; 3(10):1795-9. PubMed ID: 7531540
    [Abstract] [Full Text] [Related]

  • 19. 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 22; 55(3):243-7. PubMed ID: 11316246
    [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 22; 44(10-11):809-12. PubMed ID: 21569769
    [Abstract] [Full Text] [Related]

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