182 related articles for article (PubMed ID: 14635102)
1. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD; Wang L; Jhee KH; Singh RH; Elsas LJ
Hum Mutat; 2003 Dec; 22(6):434-41. PubMed ID: 14635102
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. 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]
6. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Wang L; Chen X; Tang B; Hua X; Klein-Szanto A; Kruger WD
Hum Mol Genet; 2005 Aug; 14(15):2201-8. PubMed ID: 15972722
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
Kluijtmans LA; Boers GH; Kraus JP; van den Heuvel LP; Cruysberg JR; Trijbels FJ; Blom HJ
Am J Hum Genet; 1999 Jul; 65(1):59-67. PubMed ID: 10364517
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Skovby F; Gaustadnes M; Mudd SH
Mol Genet Metab; 2010 Jan; 99(1):1-3. PubMed ID: 19819175
[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. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Kruger WD; Cox DR
Hum Mol Genet; 1995 Jul; 4(7):1155-61. PubMed ID: 8528202
[TBL] [Abstract][Full Text] [Related]
16. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Dawson PA; Cochran DA; Emmerson BT; Kraus JP; Dudman NP; Gordon RB
Aust N Z J Med; 1996 Apr; 26(2):180-5. PubMed ID: 8744616
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
Eur J Pediatr; 1998 Apr; 157 Suppl 2():S50-3. PubMed ID: 9587026
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
