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Items: 1 to 20 of 100

1.

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V.

Hum Mutat. 2007 Mar;28(3):255-64.

2.

Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine beta-synthase gene in great apes.

Romano M, Bacalini MG, Verschoor EJ, Crovella S, Baralle FE.

FEBS Lett. 2008 Feb 6;582(3):423-6. doi: 10.1016/j.febslet.2007.12.038. Epub 2008 Jan 15.

3.

Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.

Chassé JF, Barouki R.

Mol Cell Biochem. 2009 Dec;332(1-2):183-7. doi: 10.1007/s11010-009-0189-z. Epub 2009 Jul 11.

PMID:
19593657
4.

Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.

Tröndle U, Sunder-Plassmann G, Burgmann H, Buchmayer H, Kramer L, Bieglmayer C, Hörl WH, Födinger M.

Acta Med Austriaca. 2001;28(5):145-51.

PMID:
11774777
5.

Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12.

Linnebank M, Homberger A, Kraus JP, Harms E, Kozich V, Koch HG.

Hum Mutat. 2001 Apr;17(4):350-1.

PMID:
11295835
6.

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.

PMID:
11748855
7.

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.

8.

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. doi: 10.1016/j.ymgme.2009.09.009. Review.

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. Epub 2001 May 15.

10.

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 Jan-Feb;5(1):15-21.

PMID:
9156316
11.

G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites.

Romano M.

Biochim Biophys Acta. 2010 Aug;1799(8):568-74. doi: 10.1016/j.bbagrm.2010.06.006. Epub 2010 Jun 26.

PMID:
20601281
12.

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.

PMID:
15146473
14.

Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine beta-synthase gene.

Griffioen PH, de Jonge R, van Zelst BD, Montserrate Brouns R, Lindemans J.

Clin Chim Acta. 2005 Apr;354(1-2):191-4. Epub 2004 Dec 30.

PMID:
15748616
15.

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP.

Hum Mutat. 2004 Feb;23(2):206.

PMID:
14722927
16.

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 25;534(2):197-203. doi: 10.1016/j.gene.2013.10.060. Epub 2013 Nov 6.

PMID:
24211323
17.

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.

18.
19.

Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.

Casique L, Kabil O, Banerjee R, Martinez JC, De Lucca M.

Gene. 2013 Nov 15;531(1):117-24. doi: 10.1016/j.gene.2013.08.021. Epub 2013 Aug 24.

20.

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.

Janosík M, Sokolová J, Janosíková B, Krijt J, Klatovská V, Kozich V.

J Pediatr. 2009 Mar;154(3):431-7. doi: 10.1016/j.jpeds.2008.09.015. Epub 2008 Oct 31.

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