BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 10573007)

  • 1. Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
    Hirokawa H; Okano Y; Asada M; Fujimoto A; Suyama I; Isshiki G
    Eur J Hum Genet; 1999; 7(7):757-64. PubMed ID: 10573007
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterization of galactosemia (type 1) mutations in Japanese.
    Ashino J; Okano Y; Suyama I; Yamazaki T; Yoshino M; Furuyama J; Lin HC; Reichardt JK; Isshiki G
    Hum Mutat; 1995; 6(1):36-43. PubMed ID: 7550229
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
    Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W
    Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
    Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
    Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.
    Lai K; Langley SD; Dembure PP; Hjelm LN; Elsas LJ
    Hum Mutat; 1998; 11(1):28-38. PubMed ID: 9450900
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
    Elsas LJ; Lai K; Saunders CJ; Langley SD
    Mol Genet Metab; 2001 Apr; 72(4):297-305. PubMed ID: 11286503
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
    Kozák L; Francová H; Fajkusová L; Pijácková A; Macku J; Stastná S; Peskovová K; Martincová O; Krijt J; Bzdúch V
    Hum Mutat; 2000 Feb; 15(2):206. PubMed ID: 10649501
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular basis for Duarte and Los Angeles variant galactosemia.
    Langley SD; Lai K; Dembure PP; Hjelm LN; Elsas LJ
    Am J Hum Genet; 1997 Feb; 60(2):366-72. PubMed ID: 9012409
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular analysis in newborns from Texas affected with galactosemia.
    Yang YP; Corley N; Garcia-Heras J
    Hum Mutat; 2002 Jan; 19(1):82-3. PubMed ID: 11754113
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of common mutations in the GALT gene through ARMS.
    Mahmood U; Imran M; Naik SI; Cheema HA; Saeed A; Arshad M; Mahmood S
    Gene; 2012 Nov; 509(2):291-4. PubMed ID: 22963887
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
    Seyrantepe V; Ozguc M; Coskun T; Ozalp I; Reichardt JK
    Hum Mutat; 1999; 13(4):339. PubMed ID: 10220154
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
    Berry GT; Singh RH; Mazur AT; Guerrero N; Kennedy MJ; Chen J; Reynolds R; Palmieri MJ; Klein PD; Segal S; Elsas LJ
    Pediatr Res; 2000 Sep; 48(3):323-8. PubMed ID: 10960497
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic basis of galactosemia.
    Reichardt JK
    Hum Mutat; 1992; 1(3):190-6. PubMed ID: 1301925
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
    Ko DH; Chang HE; Song SH; Park KU; Kim JQ; Kim MC; Song YH; Hong YH; Lee DH; Song J
    Clin Chim Acta; 2010 Oct; 411(19-20):1506-10. PubMed ID: 20547145
    [TBL] [Abstract][Full Text] [Related]  

  • 15. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
    Lin HC; Kirby LT; Ng WG; Reichardt JK
    Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of novel mutations in classical galactosemia.
    Bosch AM; Ijlst L; Oostheim W; Mulders J; Bakker HD; Wijburg FA; Wanders RJ; Waterham HR
    Hum Mutat; 2005 May; 25(5):502. PubMed ID: 15841485
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
    Singh R; Thapa BR; Kaur G; Prasad R
    Clin Chim Acta; 2012 Dec; 414():191-6. PubMed ID: 23022339
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
    Podskarbi T; Kohlmetz T; Gathof BS; Kleinlein B; Bieger WP; Gresser U; Shin YS
    J Inherit Metab Dis; 1996; 19(5):638-44. PubMed ID: 8892021
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
    Coelho AI; Ramos R; Gaspar A; Costa C; Oliveira A; Diogo L; Garcia P; Paiva S; Martins E; Teles EL; Rodrigues E; Cardoso MT; Ferreira E; Sequeira S; Leite M; Silva MJ; de Almeida IT; Vicente JB; Rivera I
    J Inherit Metab Dis; 2014 Jan; 37(1):43-52. PubMed ID: 23749220
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
    Sommer M; Gathof BS; Podskarbi T; Giugliani R; Kleinlein B; Shin YS
    J Inherit Metab Dis; 1995; 18(5):567-76. PubMed ID: 8598637
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.