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 *

147 related articles for article (PubMed ID: 37257178)

  • 21. Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia.
    Choi R; Lee J; Park HD; Park JE; Kim YH; Ki CS; Lee SY; Song J; Kim JW; Lee DH
    J Pediatr Endocrinol Metab; 2017 Oct; 30(11):1211-1218. PubMed ID: 29032371
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
    Himmelreich N; Shen N; Okun JG; Thiel C; Hoffmann GF; Blau N
    Mol Genet Metab; 2018 Sep; 125(1-2):86-95. PubMed ID: 30037505
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
    Dateki S; Watanabe S; Nakatomi A; Kinoshita E; Matsumoto T; Yoshiura K; Moriuchi H
    Pediatr Int; 2016 May; 58(5):431-3. PubMed ID: 27173423
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
    Guldberg P; Levy HL; Hanley WB; Koch R; Matalon R; Rouse BM; Trefz F; de la Cruz F; Henriksen KF; Güttler F
    Am J Hum Genet; 1996 Jul; 59(1):84-94. PubMed ID: 8659548
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
    Zhang C; Zhang P; Yan Y; Zhou B; Wang Y; Tian X; Hao S; Ma P; Zheng L; Zhang Q; Hui L; Wang Y; Cao Z; Ma X
    Hum Genomics; 2023 Apr; 17(1):36. PubMed ID: 37098607
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
    Konecki DS; Lichter-Konecki U
    Hum Genet; 1991 Aug; 87(4):377-88. PubMed ID: 1679029
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
    Shen N; Heintz C; Thiel C; Okun JG; Hoffmann GF; Blau N
    Mol Genet Metab; 2016 Mar; 117(3):328-35. PubMed ID: 26803807
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
    Dobrowolski SF; Borski K; Ellingson CC; Koch R; Levy HL; Naylor EW
    J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
    Lilleväli H; Ounap K; Metspalu A
    Eur J Hum Genet; 1996; 4(5):296-300. PubMed ID: 8946176
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [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]  

  • 31. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
    Bercovich D; Elimelech A; Zlotogora J; Korem S; Yardeni T; Gal N; Goldstein N; Vilensky B; Segev R; Avraham S; Loewenthal R; Schwartz G; Anikster Y
    J Hum Genet; 2008; 53(5):407-418. PubMed ID: 18299955
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.
    Svensson E; von Döbeln U; Hagenfeldt L
    Hum Genet; 1991 May; 87(1):11-7. PubMed ID: 1674714
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
    Guldberg P; Rey F; Zschocke J; Romano V; François B; Michiels L; Ullrich K; Hoffmann GF; Burgard P; Schmidt H; Meli C; Riva E; Dianzani I; Ponzone A; Rey J; Güttler F
    Am J Hum Genet; 1998 Jul; 63(1):71-9. PubMed ID: 9634518
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
    Groselj U; Tansek MZ; Kovac J; Hovnik T; Podkrajsek KT; Battelino T
    Mol Genet Metab; 2012 Jun; 106(2):142-8. PubMed ID: 22513348
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
    Zhu T; Ye J; Han L; Qiu W; Zhang H; Liang L; Gu X
    Gene; 2013 Oct; 529(1):80-7. PubMed ID: 23932990
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
    Kayaalp E; Treacy E; Waters PJ; Byck S; Nowacki P; Scriver CR
    Am J Hum Genet; 1997 Dec; 61(6):1309-17. PubMed ID: 9399896
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
    Liu N; Huang Q; Li Q; Zhao D; Li X; Cui L; Bai Y; Feng Y; Kong X
    BMC Med Genet; 2017 Oct; 18(1):108. PubMed ID: 28982351
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A; Cardillo G; Pennino C; Carbone MT; Scognamiglio D; Correra A; Pignero A; Castaldo G; Salvatore F
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.