BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 9664612)

  • 1. Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion.
    Trioche P; Francoual J; Audibert F; Chalas J; Lindenbaum A; Odièvre M; Labrune P
    Prenat Diagn; 1998 Jun; 18(6):629-31. PubMed ID: 9664612
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis.
    Lee WJ; Yang CH; Ho ES; Shih A; Lin LY; Lin WH
    Prenat Diagn; 1996 Nov; 16(11):1027-31. PubMed ID: 8953636
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular prenatal diagnosis of glycogen storage disease type Ia.
    Qu Y; Abdenur JE; Eng CM; Desnick RJ
    Prenat Diagn; 1996 Apr; 16(4):333-6. PubMed ID: 8734807
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis].
    Qiu WJ; Zhang YF; Pan J; Ye J; Liu XQ; Han LS; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):44-8. PubMed ID: 15696478
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
    Akanuma J; Nishigaki T; Fujii K; Matsubara Y; Inui K; Takahashi K; Kure S; Suzuki Y; Ohura T; Miyabayashi S; Ogawa E; Iinuma K; Okada S; Narisawa K
    Am J Med Genet; 2000 Mar; 91(2):107-12. PubMed ID: 10748407
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
    Lei KJ; Shelly LL; Lin B; Sidbury JB; Chen YT; Nordlie RC; Chou JY
    J Clin Invest; 1995 Jan; 95(1):234-40. PubMed ID: 7814621
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).
    Parvari R; Hershkovitz E; Carmi R; Moses S
    Prenat Diagn; 1996 Sep; 16(9):862-5. PubMed ID: 8905902
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
    Ki CS; Han SH; Kim HJ; Lee SG; Kim EJ; Kim JW; Choe YH; Seo JK; Chang YJ; Park JY
    Clin Genet; 2004 Jun; 65(6):487-9. PubMed ID: 15151508
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
    Lei KJ; Pan CJ; Shelly LL; Liu JL; Chou JY
    J Clin Invest; 1994 May; 93(5):1994-9. PubMed ID: 8182131
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.
    Takahashi K; Akanuma J; Matsubara Y; Fujii K; Kure S; Suzuki Y; Wataya K; Sakamoto O; Aoki Y; Ogasawara M; Ohura T; Miyabayashi S; Narisawa K
    Am J Med Genet; 2000 May; 92(2):90-4. PubMed ID: 10797430
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Glycogen storage disease type Ia: molecular study in Brazilian patients.
    de C Reis F; Caldas HC; Norato DY; Schwartz IV; Giugliani R; Burin MG; Sartorato EL
    J Hum Genet; 2001; 46(3):146-9. PubMed ID: 11310582
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
    Kozák L; Francová H; Hrabincová E; Stastná S; Pesková K; Elleder M
    Hum Mutat; 2000 Jul; 16(1):89. PubMed ID: 10874313
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
    Barkaoui E; Cherif W; Tebib N; Charfeddine C; Ben Rhouma F; Azzouz H; Ben Chehida A; Monastiri K; Chemli J; Amri F; Ben Turkia H; Abdelmoula MS; Kaabachi N; Abdelhak S; Ben Dridi MF
    J Inherit Metab Dis; 2007 Nov; 30(6):989. PubMed ID: 18008183
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].
    Qiu ZQ; Wei M; Liu G; Liu GY
    Zhonghua Er Ke Za Zhi; 2003 Apr; 41(4):252-5. PubMed ID: 14754525
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
    Cherif W; Rhouma FB; Chehida AB; Azzouz H; Monastiri K; Amri F; Chemli J; Kaabachi N; Abdelhak S; Tebib N; Dridi MF
    Pathol Biol (Paris); 2011 Aug; 59(4):e93-6. PubMed ID: 19896294
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
    Seydewitz HH; Matern D
    Hum Mutat; 2000 Jan; 15(1):115-6. PubMed ID: 10612834
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
    Rake JP; ten Berge AM; Visser G; Verlind E; Niezen-Koning KE; Buys CH; Smit GP; Scheffer H
    Eur J Pediatr; 2000 May; 159(5):322-30. PubMed ID: 10834516
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetics of type 1 glycogen storage disease.
    Janecke AR; Mayatepek E; Utermann G
    Mol Genet Metab; 2001 Jun; 73(2):117-25. PubMed ID: 11386847
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
    Matern D; Seydewitz HH; Bali D; Lang C; Chen YT
    Eur J Pediatr; 2002 Oct; 161 Suppl 1():S10-9. PubMed ID: 12373566
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
    Eminoglu TF; Ezgu FS; Hasanoglu A; Tumer L
    Gene; 2013 Apr; 518(2):346-50. PubMed ID: 23352793
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.