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160 related items for PubMed ID: 11854868

  • 1. Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
    Huie ML, Anyane-Yeboa K, Guzman E, Hirschhorn R.
    Am J Hum Genet; 2002 Apr; 70(4):1054-7. PubMed ID: 11854868
    [Abstract] [Full Text] [Related]

  • 2. A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
    Huie ML, Shanske AL, Kasper JS, Marion RW, Hirschhorn R.
    Hum Genet; 1999 Jan; 104(1):94-8. PubMed ID: 10071199
    [Abstract] [Full Text] [Related]

  • 3. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
    [Abstract] [Full Text] [Related]

  • 4. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
    Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R.
    Hum Mol Genet; 1994 Jul 09; 3(7):1081-7. PubMed ID: 7981676
    [Abstract] [Full Text] [Related]

  • 5. Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
    Ausems MG, ten Berg K, Sandkuijl LA, Kroos MA, Bardoel AF, Roumelioti KN, Reuser AJ, Sinke R, Wijmenga C.
    J Med Genet; 2001 Aug 09; 38(8):527-9. PubMed ID: 11494962
    [No Abstract] [Full Text] [Related]

  • 6. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
    Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R.
    Biochem Biophys Res Commun; 1998 Mar 27; 244(3):921-7. PubMed ID: 9535769
    [Abstract] [Full Text] [Related]

  • 7. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
    Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.
    Hum Mol Genet; 1994 Dec 27; 3(12):2213-8. PubMed ID: 7881422
    [Abstract] [Full Text] [Related]

  • 8. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
    Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW.
    Neurogenetics; 1998 Mar 27; 1(3):205-11. PubMed ID: 10737124
    [Abstract] [Full Text] [Related]

  • 9. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
    Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R.
    Neuromuscul Disord; 2002 Feb 27; 12(2):159-66. PubMed ID: 11738358
    [Abstract] [Full Text] [Related]

  • 10. Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
    Shieh JJ, Lin CY.
    Biochem Biophys Res Commun; 1996 Feb 15; 219(2):322-6. PubMed ID: 8604985
    [Abstract] [Full Text] [Related]

  • 11. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
    Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ.
    J Neurol; 2008 Jun 15; 255(6):831-8. PubMed ID: 18458862
    [Abstract] [Full Text] [Related]

  • 12. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ.
    Hum Mutat; 1998 Jun 15; 11(3):209-15. PubMed ID: 9521422
    [Abstract] [Full Text] [Related]

  • 13. Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
    Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM.
    Clin Genet; 1998 May 15; 53(5):379-82. PubMed ID: 9660056
    [Abstract] [Full Text] [Related]

  • 14. Isolation and partial characterization of the structural gene for human acid alpha glucosidase.
    Martiniuk F, Bodkin M, Tzall S, Hirschhorn R.
    DNA Cell Biol; 1991 May 15; 10(4):283-92. PubMed ID: 1674202
    [Abstract] [Full Text] [Related]

  • 15. The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
    Beesley CE, Child AH, Yacoub MH.
    Hum Mutat; 1998 May 15; 11(5):413. PubMed ID: 10206684
    [Abstract] [Full Text] [Related]

  • 16. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
    Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.
    Am J Med Genet; 1999 Jul 02; 85(1):5-8. PubMed ID: 10377006
    [Abstract] [Full Text] [Related]

  • 17. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.
    Hermans MM, van Leenen D, Kroos MA, Reuser AJ.
    Biochem Biophys Res Commun; 1997 Dec 18; 241(2):414-8. PubMed ID: 9425285
    [Abstract] [Full Text] [Related]

  • 18. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec 18; 92(4):325-35. PubMed ID: 17723315
    [Abstract] [Full Text] [Related]

  • 19. Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.
    Shibata A, Sugiura K, Suzuki A, Ichiki T, Akiyama M.
    J Dermatol Sci; 2015 Dec 18; 80(3):196-202. PubMed ID: 26475431
    [Abstract] [Full Text] [Related]

  • 20. A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.
    Loonen MC, Busch HF, Koster JF, Martin JJ, Niermeijer MF, Schram AW, Brouwer-Kelder B, Mekes W, Slee RG, Tager JM.
    Neurology; 1981 Oct 18; 31(10):1209-16. PubMed ID: 6810200
    [Abstract] [Full Text] [Related]

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