186 related articles for article (PubMed ID: 10215408)
1. Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
Gordon RB; Cox AJ; Dawson PA; Emmerson BT; Kraus JP; Dudman NP
Hum Mutat; 1998; 11(4):332. PubMed ID: 10215408
[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. 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]
4. 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]
5. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Marble M; Geraghty MT; de Franchis R; Kraus JP; Valle D
Hum Mol Genet; 1994 Oct; 3(10):1883-6. PubMed ID: 7849717
[TBL] [Abstract][Full Text] [Related]
6. Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA.
Tsai MY; Wong PW; Garg U; Hanson NQ; Schwichtenberg K
Biochem Mol Med; 1997 Jun; 61(1):9-15. PubMed ID: 9232191
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
Kluijtmans LA; Blom HJ; Boers GH; van Oost BA; Trijbels FJ; van den Heuvel LP
Hum Genet; 1995 Aug; 96(2):249-50. PubMed ID: 7635485
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Shih VE; Fringer JM; Mandell R; Kraus JP; Berry GT; Heidenreich RA; Korson MS; Levy HL; Ramesh V
Am J Hum Genet; 1995 Jul; 57(1):34-9. PubMed ID: 7611293
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim CE; Gallagher PM; Guttormsen AB; Refsum H; Ueland PM; Ose L; Folling I; Whitehead AS; Tsai MY; Kruger WD
Hum Mol Genet; 1997 Dec; 6(13):2213-21. PubMed ID: 9361025
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Tsai MY; Hanson NQ; Bignell MK; Schwichtenberg KA
Clin Biochem; 1996 Oct; 29(5):473-7. PubMed ID: 8884070
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
