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Mette Gaustadnes

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TOP 3
Flemming Skovby; Mette Gaustadnes; S Harvey Mudd
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Kasper Thorsen; Karina D Sørensen; Anne Sofie Brems-Eskildsen; Charlotte Modin; Mette Gaustadnes; Anne-Mette K Hein; Mogens Kruhøffer; Søren Laurberg; Michael Borre; Kai Wang; Søren Brunak; Adrian R Krainer; Niels Tørring; Lars Dyrskjøt; Claus L Andersen; Torben F Orntoft
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis.
Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans Georg Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

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All Publications

2010: Flemming Skovby; Mette Gaustadnes; S Harvey Mudd
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Molecular genetics and metabolism 2010;99(1):1-3.
2008: Kasper Thorsen; Karina D Sørensen; Anne Sofie Brems-Eskildsen; Charlotte Modin; Mette Gaustadnes; Anne-Mette K Hein; Mogens Kruhøffer; Søren Laurberg; Michael Borre; Kai Wang; Søren Brunak; Adrian R Krainer; Niels Tørring; Lars Dyrskjøt; Claus L Andersen; Torben F Orntoft
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis.
Molecular & cellular proteomics : MCP 2008;7(7):1214-24.
2007: Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans Georg Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Human mutation 2007;28(3):255-64.
2006: Mette Gaustadnes; Torben F Ørntoft; Jens Ledet Jensen; Niels Torring
Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs.
Human mutation 2006;27(2):187-94.
2002: Mette Gaustadnes; Bridget Wilcken; Jana Oliveriusova; Jim McGill; Janice Fletcher; Jan P Kraus; David E L Wilcken
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Human mutation 2002;20(2):117-26.
2002: Kenneth N Maclean; Mette Gaustadnes; Jana Oliveriusová; Miroslav Janosík; Eva Kraus; Viktor Kozich; Vladimir Kery; Flemming Skovby; Niels Rüdiger; Jørgen Ingerslev; Sally P Stabler; Robert H Allen; Jan P Kraus
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Human mutation 2002;19(6):641-55.
2001: Miroslav Janosík; Vladimir Kery; Mette Gaustadnes; Kenneth N Maclean; Jan P Kraus
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.
Biochemistry 2001;40(35):10625-33.
2000: Torben Bjerregaard Larsen; B Nørgaard-Pedersen; J B Lundemose; Niels Rüdiger; Mette Gaustadnes; Ivan Brandslund
Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis.
Thrombosis research 2000;98(4):233-9.
2000: Mette Gaustadnes; Niels Rüdiger; K Rasmussen; Jørgen Ingerslev
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Arteriosclerosis, thrombosis, and vascular biology 2000;20(5):1392-5.
2000: Mette Gaustadnes; Niels Rüdiger; K Rasmussen; Jørgen Ingerslev
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Thrombosis and haemostasis 2000;83(4):554-8.
1999: Mette Gaustadnes; Niels Rüdiger; J Møller; K Rasmussen; T Bjerregaard Larsen; Jørgen Ingerslev
Thrombophilic predisposition in stroke and venous thromboembolism in Danish patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1999;10(5):251-9.
1999: Mette Gaustadnes; Jørgen Ingerslev; N Rütiger
Prevalence of congenital homocystinuria in Denmark.
The New England journal of medicine 1999;340(19):1513.
1999: Jan P Kraus; Miroslav Janosík; Viktor Kozich; R Mandell; Vivian E Shih; Maria Pia Sperandeo; Gianfranco Sebastio; Raffaella de Franchis; Generoso Andria; Leo A J Kluijtmans; H Blom; Godfried H J Boers; Ross B Gordon; P Kamoun; M Y Tsai; warren kruger; Hans Georg Koch; T Ohura; Mette Gaustadnes
Cystathionine beta-synthase mutations in homocystinuria.
Human mutation 1999;13(5):362-75.
1998: Mette Gaustadnes; Niels Rüdiger; Jørgen Ingerslev
The 20210 A allele of the prothrombin gene is not a risk factor for juvenile stroke in the Danish population.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1998;9(7):663-4.
1998: Mette Gaustadnes; Leo A J Kluijtmans; O K Jensen; K Rasmussen; Sandra G Heil; Jan P Kraus; H J Blom; Jørgen Ingerslev; Niels Rüdiger
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
FEBS letters 1998;431(2):175-9.
1997: Ole Haagen Nielsen; Niels Rüdiger; Mette Gaustadnes; T Horn
Intestinal interleukin-8 concentration and gene expression in inflammatory bowel disease.
Scandinavian journal of gastroenterology 1997;32(10):1028-34.