BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

283 related articles for article (PubMed ID: 1301198)

  • 1. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
    Kozich V; Kraus JP
    Hum Mutat; 1992; 1(2):113-23. PubMed ID: 1301198
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
    Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB
    Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
    Kluijtmans LA; Boers GH; Stevens EM; Renier WO; Kraus JP; Trijbels FJ; van den Heuvel LP; Blom HJ
    J Clin Invest; 1996 Jul; 98(2):285-9. PubMed ID: 8755636
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
    Orendáè M; Pronicka E; Kubalska J; Janosik M; Sokolová J; Linnebank M; Koch HG; Kozich V
    Hum Mutat; 2004 Jun; 23(6):631. PubMed ID: 15146473
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
    Gaustadnes M; Wilcken B; Oliveriusova J; McGill J; Fletcher J; Kraus JP; Wilcken DE
    Hum Mutat; 2002 Aug; 20(2):117-26. PubMed ID: 12124992
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
    de Franchis R; Kraus E; Kozich V; Sebastio G; Kraus JP
    Hum Mutat; 1999; 13(6):453-7. PubMed ID: 10408774
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
    de Franchis R; Kozich V; McInnes RR; Kraus JP
    Hum Mol Genet; 1994 Jul; 3(7):1103-8. PubMed ID: 7981678
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cystathionine beta-synthase mutations in homocystinuria.
    Kraus JP; Janosík M; Kozich V; Mandell R; Shih V; Sperandeo MP; Sebastio G; de Franchis R; Andria G; Kluijtmans LA; Blom H; Boers GH; Gordon RB; Kamoun P; Tsai MY; Kruger WD; Koch HG; Ohura T; Gaustadnes M
    Hum Mutat; 1999; 13(5):362-75. PubMed ID: 10338090
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
    Chen S; Ito M; Saijo T; Naito E; Kuroda Y
    J Med Invest; 1999 Aug; 46(3-4):186-91. PubMed ID: 10687314
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
    Hu FL; Gu Z; Kozich V; Kraus JP; Ramesh V; Shih VE
    Hum Mol Genet; 1993 Nov; 2(11):1857-60. PubMed ID: 7506602
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
    Janosík M; Oliveriusová J; Janosíková B; Sokolová J; Kraus E; Kraus JP; Kozich V
    Am J Hum Genet; 2001 Jun; 68(6):1506-13. PubMed ID: 11359213
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
    Sokolová J; Janosíková B; Terwilliger JD; Freiberger T; Kraus JP; Kozich V
    Hum Mutat; 2001 Dec; 18(6):548-9. PubMed ID: 11748855
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
    Linnebank M; Homberger A; Junker R; Nowak-Goettl U; Harms E; Koch HG
    Thromb Haemost; 2001 Jun; 85(6):986-8. PubMed ID: 11434706
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
    Urreizti R; Balcells S; Rodés M; Vilarinho L; Baldellou A; Couce ML; Muñoz C; Campistol J; Pintó X; Vilaseca MA; Grinberg D
    Hum Mutat; 2003 Jul; 22(1):103. PubMed ID: 12815602
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
    Gaustadnes M; Kluijtmans LA; Jensen OK; Rasmussen K; Heil SG; Kraus JP; Blom HJ; Ingerslev J; Rüdiger N
    FEBS Lett; 1998 Jul; 431(2):175-9. PubMed ID: 9708897
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
    Mendes MI; Colaço HG; Smith DE; Ramos RJ; Pop A; van Dooren SJ; Tavares de Almeida I; Kluijtmans LA; Janssen MC; Rivera I; Salomons GS; Leandro P; Blom HJ
    J Inherit Metab Dis; 2014 Mar; 37(2):245-54. PubMed ID: 23974653
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
    Sebastio G; Sperandeo MP; Panico M; de Franchis R; Kraus JP; Andria G
    Am J Hum Genet; 1995 Jun; 56(6):1324-33. PubMed ID: 7762555
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
    Linnebank M; Janosik M; Kozich V; Pronicka E; Kubalska J; Sokolova J; Linnebank A; Schmidt E; Leyendecker C; Klockgether T; Kraus JP; Koch HG
    Hum Mutat; 2004 Oct; 24(4):352-3. PubMed ID: 15365998
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
    Karaca M; Hismi B; Ozgul RK; Karaca S; Yilmaz DY; Coskun T; Sivri HS; Tokatli A; Dursun A
    Gene; 2014 Jan; 534(2):197-203. PubMed ID: 24211323
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
    Maclean KN; Gaustadnes M; Oliveriusová J; Janosík M; Kraus E; Kozich V; Kery V; Skovby F; Rüdiger N; Ingerslev J; Stabler SP; Allen RH; Kraus JP
    Hum Mutat; 2002 Jun; 19(6):641-55. PubMed ID: 12007221
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.