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 *

108 related articles for article (PubMed ID: 7627180)

  • 1. Molecular basis of dihydropteridine reductase deficiency.
    Smooker PM; Cotton RG
    Hum Mutat; 1995; 5(4):279-84. PubMed ID: 7627180
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
    Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG
    Hum Mutat; 1998; 12(4):267-73. PubMed ID: 9744478
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.
    Smooker PM; Howells DW; Cotton RG
    Biochemistry; 1993 Jun; 32(25):6443-9. PubMed ID: 8518287
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
    Ikeda H; Matsubara Y; Mikami H; Kure S; Owada M; Gough T; Smooker PM; Dobbs M; Dahl HH; Cotton RG; Narisawa K
    Hum Genet; 1997 Oct; 100(5-6):637-42. PubMed ID: 9341885
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis.
    Kalkanoglu HS; Romstad A; Coşkun T; Güttler F
    Prenat Diagn; 2001 Oct; 21(10):868-70. PubMed ID: 11746132
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
    Smooker PM; Christodoulou J; McInnes RR; Cotton RG
    J Med Genet; 1995 Mar; 32(3):220-3. PubMed ID: 7783174
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
    Farrugia R; Scerri CA; Montalto SA; Parascandolo R; Neville BG; Felice AE
    Mol Genet Metab; 2007 Mar; 90(3):277-83. PubMed ID: 17188538
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B; Blau N
    Hum Mutat; 2006 Sep; 27(9):870-8. PubMed ID: 16917893
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The spectrum of mutations in dihydropteridine reductase deficiency.
    Smooker PM; Howells DW; Dianzani I; Cotton RG
    Adv Exp Med Biol; 1993; 338():135-8. PubMed ID: 8304097
    [No Abstract]   [Full Text] [Related]  

  • 10. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
    Romstad A; Kalkanoğlu HS; Coşkun T; Demirkol M; Tokatli A; Dursun A; Baykal T; Ozalp I; Guldberg P; Güttler F
    Hum Genet; 2000 Dec; 107(6):546-53. PubMed ID: 11153907
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
    Dahl HH; Hutchison W; McAdam W; Wake S; Morgan FJ; Cotton RG
    Nucleic Acids Res; 1987 Mar; 15(5):1921-32. PubMed ID: 3031582
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
    Dianzani I; Howells DW; Ponzone A; Saleeba JA; Smooker PM; Cotton RG
    J Med Genet; 1993 Jun; 30(6):465-9. PubMed ID: 8326489
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
    Smooker PM; Gough TJ; Cotton RG; Alliaudi C; de Sanctis L; Dianzani I
    Hum Mutat; 1999; 13(6):503-4. PubMed ID: 10408783
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency.
    Ventzke A; Hoffmann J; Crushell E; Monavari A; Mayne PD; Knerr I
    Ir Med J; 2015; 108(10):312-4. PubMed ID: 26817292
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
    Arai N; Narisawa K; Hayakawa H; Tada K
    Pediatrics; 1982 Sep; 70(3):426-30. PubMed ID: 7110817
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.
    Brown RM; Dahl HH
    Genomics; 1987 Sep; 1(1):67-70. PubMed ID: 3666748
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structural and mechanistic implications of incorporating naturally occurring aberrant mutations of human dihydropteridine reductase into a rat model.
    Varughese KI; Xuong NH; Whiteley JM
    Int J Pept Protein Res; 1994 Sep; 44(3):278-87. PubMed ID: 7822105
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
    Pogson D
    J Intellect Disabil Res; 1997 Jun; 41 ( Pt 3)():208-14. PubMed ID: 9219069
    [TBL] [Abstract][Full Text] [Related]  

  • 19. QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
    Lu DY; Ye J; Han LS; Qiu WJ; Zhang HW; Zhou JD; Bao PZ; Zhang YF; Gu XF
    World J Pediatr; 2014 Aug; 10(3):219-26. PubMed ID: 25124972
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe.
    Hayasaka K; Narisawa K; Ohura T; Ogawa E; Dahl HH
    J Inherit Metab Dis; 1990; 13(6):873-8. PubMed ID: 1981920
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.