BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

103 related articles for article (PubMed ID: 8111961)

  • 1. Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity.
    Nagao M; Raymond D; Kim J; Tanaka K
    Clin Chim Acta; 1993 Nov; 220(2):165-74. PubMed ID: 8111961
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
    Yokota I; Coates PM; Hale DE; Rinaldo P; Tanaka K
    Am J Hum Genet; 1991 Dec; 49(6):1280-91. PubMed ID: 1684086
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
    Yokota I; Indo Y; Coates PM; Tanaka K
    J Clin Invest; 1990 Sep; 86(3):1000-3. PubMed ID: 2394825
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system.
    Tsai MY; Schwichtenberg K; Tuchman M
    Clin Chem; 1993 Feb; 39(2):280-3. PubMed ID: 8432018
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.
    Gregersen N; Blakemore AI; Winter V; Andresen B; Kølvraa S; Bolund L; Curtis D; Engel PC
    Clin Chim Acta; 1991 Nov; 203(1):23-34. PubMed ID: 1769118
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
    Fujii K; Matsubara Y; Akanuma J; Takahashi K; Kure S; Suzuki Y; Imaizumi M; Iinuma K; Sakatsume O; Rinaldo P; Narisawa K
    Hum Mutat; 2000; 15(2):189-96. PubMed ID: 10649496
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
    Tanaka K; Yokota I; Coates PM; Strauss AW; Kelly DP; Zhang Z; Gregersen N; Andresen BS; Matsubara Y; Curtis D
    Hum Mutat; 1992; 1(4):271-9. PubMed ID: 1363805
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.
    de Vries HG; Niezen-Koning K; Kliphuis JW; Smit GP; Scheffer H; ten Kate LP
    Hum Genet; 1996 Jul; 98(1):1-2. PubMed ID: 8682492
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.
    Zhang Z; Kolvraa S; Zhou Y; Kelly DP; Gregersen N; Strauss AW
    Am J Hum Genet; 1993 Jun; 52(6):1111-21. PubMed ID: 8099254
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.
    Yokota I; Coates PM; Hale DE; Rinaldo P; Tanaka K
    Prog Clin Biol Res; 1992; 375():425-40. PubMed ID: 1359563
    [No Abstract]   [Full Text] [Related]  

  • 11. Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
    Ding JH; Yang BZ; Bao Y; Roe CR; Chen YT
    Am J Hum Genet; 1992 Jan; 50(1):229-33. PubMed ID: 1729890
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population.
    Kozàk L; Hrabincovà E; Rudolfoà J; Vràbelovà S; Freiberger T
    Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():49-50. PubMed ID: 11400780
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.
    Romppanen EL; Mononen T; Mononen I
    Clin Chem; 1998 Jan; 44(1):68-71. PubMed ID: 9550560
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
    Miller ME; Brooks JG; Forbes N; Insel R
    Pediatr Res; 1992 Apr; 31(4 Pt 1):305-7. PubMed ID: 1570195
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
    Gregersen N; Andresen BS; Bross P; Winter V; Rüdiger N; Engst S; Christensen E; Kelly D; Strauss AW; Kølvraa S
    Hum Genet; 1991 Apr; 86(6):545-51. PubMed ID: 1902818
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR.
    Hendrickx J; Van Osta P; Eyskens F; Matsubara Y; Narisawa K; Willems PJ
    Prenat Diagn; 1992 Jan; 12(1):74-6. PubMed ID: 1557317
    [No Abstract]   [Full Text] [Related]  

  • 17. Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Matsubara Y; Narisawa K; Miyabayashi S; Tada K; Coates PM; Bachmann C; Elsas LJ; Pollitt RJ; Rhead WJ; Roe CR
    Biochem Biophys Res Commun; 1990 Aug; 171(1):498-505. PubMed ID: 2393404
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.
    Kelly DP; Hale DE; Rutledge SL; Ogden ML; Whelan AJ; Zhang Z; Strauss AW
    J Inherit Metab Dis; 1992; 15(2):171-80. PubMed ID: 1356169
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
    Andresen BS; Jensen TG; Bross P; Knudsen I; Winter V; Kølvraa S; Bolund L; Ding JH; Chen YT; Van Hove JL
    Am J Hum Genet; 1994 Jun; 54(6):975-88. PubMed ID: 8198141
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.
    Iolascon A; Parrella T; Perrotta S; Guardamagna O; Coates PM; Sartore M; Surrey S; Fortina P
    J Med Genet; 1994 Jul; 31(7):551-4. PubMed ID: 7966191
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.