BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 1288453)

  • 1. [Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
    Rey F; Abadie V; Lyonnet S; Berthelon M; Caillaud C; Melle D; Labrune P; Saudubray JM; Munnich A; Rey J
    Arch Fr Pediatr; 1992 Oct; 49(8):705-10. PubMed ID: 1288453
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
    Kasnauskiene J; Cimbalistiene L; Kucinskas V
    Genetika; 2008 Oct; 44(10):1397-403. PubMed ID: 19062537
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
    Kasnauskiene J; Cimbalistiene L; Kucinskas V
    Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
    Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R
    Pediatrics; 2003 Dec; 112(6 Pt 2):1530-3. PubMed ID: 14654659
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
    Bénit P; Rey F; Blandin-Savoja F; Munnich A; Abadie V; Rey J
    Mol Genet Metab; 1999 Sep; 68(1):43-7. PubMed ID: 10479481
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.
    Mallolas J; Milà M; Lambruschini N; Cambra FJ; Campistol J; Vilaseca MA
    Mol Genet Metab; 1999 Jun; 67(2):156-61. PubMed ID: 10356315
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenylketonuria mutations in Northern China.
    Song F; Qu YJ; Zhang T; Jin YW; Wang H; Zheng XY
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S107-18. PubMed ID: 16256386
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
    Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
    Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
    Růzicková S; Kozák L; Blazková M; Kapras J; St'astná S
    Cas Lek Cesk; 1997 May; 136(9):282-5. PubMed ID: 9264877
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
    Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL
    Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study.
    Treacy EP; Delente JJ; Elkas G; Carter K; Lambert M; Waters PJ; Scriver CR
    Pediatr Res; 1997 Oct; 42(4):430-5. PubMed ID: 9380432
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
    Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
    Shu JB; Meng YT; Dang LH; Fu BJ; Song L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
    Acosta A; Silva W; Carvalho T; Gomes M; Zago M
    Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
    [TBL] [Abstract][Full Text] [Related]  

  • 16. How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression.
    Waters PJ
    Hum Mutat; 2003 Apr; 21(4):357-69. PubMed ID: 12655545
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis in hyperphenylalaninemia patients from South Italy.
    Trunzo R; Santacroce R; D'Andrea G; Longo V; De Girolamo G; Dimatteo C; Leccese A; Lillo V; Papadia F; Margaglione M
    Clin Biochem; 2013 Dec; 46(18):1896-8. PubMed ID: 23792259
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
    Bosco P; Cali F; Meli C; Mollica F; Zammarchi E; Cerone R; Vanni C; Palillo L; Greco D; Romano V
    Hum Mutat; 1998; 11(3):240-3. PubMed ID: 9521426
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.
    Desviat LR; Pérez B; García MJ; Martínez-Pardo M; Baldellou A; Arena J; Sanjurjo P; Campistol J; Couce ML; Fernández A; Cardesa J; Ugarte M
    Eur J Hum Genet; 1997; 5(4):196-202. PubMed ID: 9359039
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.