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 *

100 related articles for article (PubMed ID: 8445616)

  • 1. Mutation analysis in Turkish phenylketonuria patients.
    Ozgüç M; Ozalp I; Coşkun T; Yilmaz E; Erdem H; Ayter S
    J Med Genet; 1993 Feb; 30(2):129-30. PubMed ID: 8445616
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
    Ozgüç M; Ozalp I; Coşkun T; Yilmaz E; Erdem H; Ayter S
    Turk J Pediatr; 1993; 35(1):11-4. PubMed ID: 7901929
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
    Zygulska M; Eigel A; Pietrzyk JJ; Horst J
    Hum Mutat; 1993; 2(3):238-9. PubMed ID: 8364593
    [No Abstract]   [Full Text] [Related]  

  • 4. Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
    Kalaydjieva L; Dworniczak B; Kremensky I; Koprivarova K; Radeva B; Milusheva R; Aulehla-Scholz C; Horst J
    Clin Genet; 1992 Mar; 41(3):123-8. PubMed ID: 1563085
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
    Guldberg P; Henriksen KF; Güttler F
    Genomics; 1993 Jul; 17(1):141-6. PubMed ID: 8406445
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.
    Zygulska M; Eigel A; Dworniczak B; Sutkowska A; Pietrzyk JJ; Horst J
    Hum Genet; 1991 Nov; 88(1):91-4. PubMed ID: 1683647
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
    Dworniczak B; Aulehla-Scholz C; Horst J
    Hum Genet; 1989 Dec; 84(1):95-6. PubMed ID: 2606484
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
    Eiken HG; Knappskog PM; Apold J; Skjelkvåle L; Boman H
    Hum Mutat; 1992; 1(5):388-91. PubMed ID: 1301947
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
    Ramus SJ; Forrest SM; Cotton RG
    Hum Mutat; 1992; 1(2):154-8. PubMed ID: 1301202
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.
    DiLella AG; Huang WM; Woo SL
    Lancet; 1988 Mar; 1(8584):497-9. PubMed ID: 2893918
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
    Kozák L; Blazková M; Kuhrová V; Pijácková A; Růzicková S; St'astná S
    J Med Genet; 1997 Nov; 34(11):893-8. PubMed ID: 9391881
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
    Dworniczak B; Aulehla-Scholz C; Kalaydjieva L; Bartholomé K; Grudda K; Horst J
    Genomics; 1991 Oct; 11(2):242-6. PubMed ID: 1769645
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
    Sueoka H; Nagao M; Chiba S
    Genet Test; 2000; 4(3):249-56. PubMed ID: 11142755
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.
    Dehghanian F; Silawi M; Tabei SM
    Clin Lab; 2017 Feb; 63(2):295-300. PubMed ID: 28182360
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Modern techniques of differentiating the various phenotypes of phenylketonuria.
    Guttler F
    Postgrad Med J; 1989; 65 Suppl 2():S2-6. PubMed ID: 2576129
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two distinct mutations at a single BamHI site in phenylketonuria.
    Melle D; Verelst P; Rey F; Berthelon M; François B; Munnich A; Lyonnet S
    J Med Genet; 1991 Jan; 28(1):38-40. PubMed ID: 1671881
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
    Zhang J; Meng J; Zhai X; Fang G; Gao J; Shi M; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic background of clinical homogeneity of phenylketonuria in Poland.
    Jaruzelska J; Matuszak R; Lyonnet S; Rey F; Rey J; Filipowicz J; Borski K; Munnich A
    J Med Genet; 1993 Mar; 30(3):232-4. PubMed ID: 8097262
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
    Kleiman S; Bernstein J; Schwartz G; Eisensmith RC; Woo SL; Shiloh Y
    Hum Mutat; 1992; 1(4):340-3. PubMed ID: 1301942
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
    Fang B; Yuan L; Wang M; Huang S; Wang T; Miao S; Ye J; Sun N; Lo H; Savio LC
    Chin Med Sci J; 1992 Dec; 7(4):205-8. PubMed ID: 1307495
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.