Gaustadnes M - Search Results

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. Vyletal P, et al. Among authors: gaustadnes m. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.

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. Gaustadnes M, et al. Hum Mutat. 2002 Aug;20(2):117-26. doi: 10.1002/humu.10104. Hum Mutat. 2002. PMID: 12124992

3

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. Kraus JP, et al. Among authors: gaustadnes m. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.

4

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. Maclean KN, et al. Among authors: gaustadnes m. Hum Mutat. 2002 Jun;19(6):641-55. doi: 10.1002/humu.10089. Hum Mutat. 2002. PMID: 12007221

5

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Skovby F, Gaustadnes M, Mudd SH. Skovby F, et al. Among authors: gaustadnes m. Mol Genet Metab. 2010 Jan;99(1):1-3. doi: 10.1016/j.ymgme.2009.09.009. Mol Genet Metab. 2010. PMID: 19819175 Free PMC article. Review.

6

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. Gaustadnes M, et al. FEBS Lett. 1998 Jul 17;431(2):175-9. doi: 10.1016/s0014-5793(98)00743-1. FEBS Lett. 1998. PMID: 9708897 Free article.

7

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region.

Janosík M, Kery V, Gaustadnes M, Maclean KN, Kraus JP. Janosík M, et al. Among authors: gaustadnes m. Biochemistry. 2001 Sep 4;40(35):10625-33. doi: 10.1021/bi010711p. Biochemistry. 2001. PMID: 11524006

8

Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.

Gaustadnes M, Rüdiger N, Rasmussen K, Ingerslev J. Gaustadnes M, et al. Arterioscler Thromb Vasc Biol. 2000 May;20(5):1392-5. doi: 10.1161/01.atv.20.5.1392. Arterioscler Thromb Vasc Biol. 2000. PMID: 10807759

9

Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs.

Gaustadnes M, Ørntoft TF, Jensen JL, Torring N. Gaustadnes M, et al. Hum Mutat. 2006 Feb;27(2):187-94. doi: 10.1002/humu.20248. Hum Mutat. 2006. PMID: 16395669

10

Leiden Open Variation Database of the MUTYH gene.

Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Out AA, et al. Among authors: gaustadnes m. Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. Hum Mutat. 2010. PMID: 20725929

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