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 *

139 related articles for article (PubMed ID: 7981676)

  • 1. 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; 3(7):1081-7. PubMed ID: 7981676
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 244(3):921-7. PubMed ID: 9535769
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 219(2):322-6. PubMed ID: 8604985
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 3(12):2213-8. PubMed ID: 7881422
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 235(1):138-41. PubMed ID: 9196050
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 1(3):205-11. PubMed ID: 10737124
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 11(3):209-15. PubMed ID: 9521422
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
    Boerkoel CF; Exelbert R; Nicastri C; Nichols RC; Miller FW; Plotz PH; Raben N
    Am J Hum Genet; 1995 Apr; 56(4):887-97. PubMed ID: 7717400
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
    Pittis MG; Montalvo AL; Miocic S; Martini C; Deganuto M; Candusso M; Ciana G; Bembi B
    Am J Med Genet A; 2003 Sep; 121A(3):225-30. PubMed ID: 12923862
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA
    Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 11(5):413. PubMed ID: 10206684
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL; Cariati R; Deganuto M; Guerci V; Garcia R; Ciana G; Bembi B; Pittis MG
    Mol Genet Metab; 2004 Mar; 81(3):203-8. PubMed ID: 14972326
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM; van Leenen D; Kroos MA; Beesley CE; Van Der Ploeg AT; Sakuraba H; Wevers R; Kleijer W; Michelakakis H; Kirk EP; Fletcher J; Bosshard N; Basel-Vanagaite L; Besley G; Reuser AJ
    Hum Mutat; 2004 Jan; 23(1):47-56. PubMed ID: 14695532
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.
    Lin CY; Shieh JJ
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1996; 37(2):115-21. PubMed ID: 8935410
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 92(4):325-35. PubMed ID: 17723315
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
    Huie ML; Chen AS; Tsujino S; Shanske S; DiMauro S; Engel AG; Hirschhorn R
    Hum Mol Genet; 1994 Dec; 3(12):2231-6. PubMed ID: 7881425
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F; Mehler M; Bodkin M; Tzall S; Hirschhorn K; Zhong N; Hirschhorn R
    DNA Cell Biol; 1991 Nov; 10(9):681-7. PubMed ID: 1684505
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
    Tsunoda H; Ohshima T; Tohyama J; Sasaki M; Sakuragawa N; Martiniuk F
    Hum Genet; 1996 Apr; 97(4):496-9. PubMed ID: 8834250
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.