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 *

151 related articles for article (PubMed ID: 2246858)

  • 1. Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.
    Cotton RG
    J Inherit Metab Dis; 1990; 13(5):739-50. PubMed ID: 2246858
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)].
    Chestkov VV; Shishkin SS
    Vopr Med Khim; 1986; 32(4):7-12. PubMed ID: 3020793
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Genetic diagnosis in classical phenylketonuria].
    Wulff K; Herrmann FH; Wehnert M; Seidlitz G; Schütz M
    Z Arztl Fortbild (Jena); 1988; 82(22):1127-31. PubMed ID: 2907835
    [No Abstract]   [Full Text] [Related]  

  • 4. The human phenylalanine hydroxylase gene.
    Woo SL; Güttler F; Ledley FD; Lidsky AS; Kwok SC; DiLella AG; Robson KJ
    Prog Clin Biol Res; 1985; 177():123-35. PubMed ID: 2989834
    [No Abstract]   [Full Text] [Related]  

  • 5. Phenylketonuria and the phenylalanine hydroxylase gene.
    Eisensmith RC; Woo SL
    Mol Biol Med; 1991 Feb; 8(1):3-18. PubMed ID: 1943687
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations.
    Ledley FD
    Eur J Pediatr; 1991 Sep; 150(11):752-6. PubMed ID: 1959535
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria].
    Ivashchenko TE; Belova EG; Baranov VS
    Genetika; 1993 May; 29(5):862-5. PubMed ID: 8335244
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.
    Ledley FD; Koch R; Jew K; Beaudet A; O'Brien WE; Bartos DP; Woo SL
    J Pediatr; 1988 Sep; 113(3):463-8. PubMed ID: 2900886
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].
    Zhou YA; Gao WH; Yang JP; Zhang QB; Zhang GX; Liu JP; Ma YX; Zhang XG; Yu L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):683-5. PubMed ID: 23225049
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
    Wang M
    Zhonghua Yi Xue Za Zhi; 1992 Nov; 72(11):670-3, 702-3. PubMed ID: 1338705
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
    GUO HJ; ZHAO ZH; JIANG M; SHI HR; KONG XD
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):142-6. PubMed ID: 21462123
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].
    Kozák L; Kuhrová V; Blazková M; Fajkusová L; Dvoráková D; Pijácková A
    Cas Lek Cesk; 1995 Jun; 134(12):385-7. PubMed ID: 7553743
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
    Acosta AX; Silva WA; Carvalho TM; Zago MA
    Hum Mutat; 2001; 17(1):77. PubMed ID: 11139255
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F; Guldberg P
    Acta Paediatr Suppl; 1994 Dec; 407():49-56. PubMed ID: 7766959
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
    Skriabin BV; Koval'chuk LA; Khal'chitskiĭ SE; Gol'tsov AA; Kaboev OK; Plutalov OV; Berlin IuA; Shvarts EI
    Bioorg Khim; 1989 Dec; 15(12):1690-2. PubMed ID: 2634967
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
    Qiang R; Yu W; Cai N; Wang X; Qin C; Zhang L; Ma X; Wang L; Shi X; Liu H; Li X; Wang X; He J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):74-7. PubMed ID: 24510568
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 8.