BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 16470595)

  • 1. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
    Bermúdez M; Frank N; Bernal J; Urreizti R; Briceño I; Merinero B; Perez-Cerdá C; Ugarte M; Grinberg D; Balcells S; Kraus JP
    Hum Mutat; 2006 Mar; 27(3):296. PubMed ID: 16470595
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
    De Lucca M; Casique L
    Mol Genet Metab; 2004 Mar; 81(3):209-15. PubMed ID: 14972327
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of homocystinuria in Brazilian patients.
    Porto MP; Galdieri LC; Pereira VG; Vergani N; da Rocha JC; Micheletti C; Martins AM; Perez AB; Almeida VD
    Clin Chim Acta; 2005 Dec; 362(1-2):71-8. PubMed ID: 15993874
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
    Urreizti R; Asteggiano C; Bermudez M; Córdoba A; Szlago M; Grosso C; de Kremer RD; Vilarinho L; D'Almeida V; Martínez-Pardo M; Peña-Quintana L; Dalmau J; Bernal J; Briceño I; Couce ML; Rodés M; Vilaseca MA; Balcells S; Grinberg D
    J Hum Genet; 2006; 51(4):305-313. PubMed ID: 16479318
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
    El-Said MF; Badii R; Bessisso MS; Shahbek N; El-Ali MG; El-Marikhie M; El-Zyoid M; Salem MS; Bener A; Hoffmann GF; Zschocke J
    Hum Mutat; 2006 Jul; 27(7):719. PubMed ID: 16786517
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
    Alcaide P; Krijt J; Ruiz-Sala P; Ješina P; Ugarte M; Kožich V; Merinero B
    Clin Chim Acta; 2015 Jan; 438():261-5. PubMed ID: 25218699
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
    Zaidi SH; Faiyaz-Ul-Haque M; Shuaib T; Balobaid A; Rahbeeni Z; Abalkhail H; Al-Abdullatif A; Al-Hassnan Z; Peltekova I; Al-Owain M
    Clin Genet; 2012 Jun; 81(6):563-70. PubMed ID: 21517828
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
    Elsaid MF; Bener A; Lindner M; Alzyoud M; Shahbek N; Abdelrahman MO; Abdoh G; Bessisso MS; Zschocke J; Hoffmann GF
    Mol Genet Metab; 2007; 92(1-2):100-3. PubMed ID: 17686644
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Correction of disease-causing CBS mutations in yeast.
    Shan X; Kruger WD
    Nat Genet; 1998 May; 19(1):91-3. PubMed ID: 9590298
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.