284 related articles for article (PubMed ID: 15146473)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
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. 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]
10. 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]
11. 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]
12. 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]
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. 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]
15. Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Gallagher PM; Naughten E; Hanson NQ; Schwichtenberg K; Bignell M; Yuan M; Ward P; Yap S; Whitehead AS; Tsai MY
Mol Genet Metab; 1998 Dec; 65(4):298-302. PubMed ID: 9889017
[TBL] [Abstract][Full Text] [Related]
16. Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
Silao CL; Fabella TD; Rama KI; Estrada SC
Pediatr Int; 2015 Oct; 57(5):884-7. PubMed ID: 25939784
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M; Urreizti R; Vilarinho L; Grosso C; Dodelson de Kremer R; Asteggiano CG; Dalmau J; García AM; Vilaseca MA; Grinberg D; Balcells S
Hum Mutat; 2011 Jul; 32(7):835-42. PubMed ID: 21520339
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
