Research output per year
Research output per year
- 38 results
Search results
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2025
RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Study
on behalf of Danish Thyroid Cancer Group (DATHYRCA), Feb 2025, In: Cancers. 17, 3, 374.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
2023
Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study
Holm, M., Vestergaard, P., Poulsen, M. M., Rasmussen, Å. K., Feldt-Rasmussen, U., Bay, M., Rolighed, L., Londero, S., Pedersen, H. B., Hahn, C. H., Rask, K. B., Nielsen, H. H., Gaustadnes, M., Rossing, M. C., Hermann, A. P., Godballe, C. & Mathiesen, J. S., Apr 2023, In: Cancers. 15, 7, 2125.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile8 Citations (Scopus) -
2021
Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
Ejerskov, C., Gaustadnes, M., Ostergaard, J. R., Krogh, K., Thorsen, K., Borglum, A. D. & Haagerup, A., Dec 2021, In: Scientific Reports. 11, 9179.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
2019
Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L., Godballe, C. & Danish Thyroid Cancer Group (DATHYRCA), Jan 2019, In: Clinical epidemiology. 11, p. 93-99 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access8 Citations (Scopus) -
Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study
Høxbroe Michaelsen, S., Ornstrup, M. J., Poulsen, M. M., Bennedbæk, F. N., Gaustadnes, M., Rossing, M., Darling, P., Vestergaard, P. & Mathiesen, J. S., 2019, In: Journal of Surgical Oncology. 119, 6, p. 687-693 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
8 Citations (Scopus) -
Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study
The Danish Thyroid Cancer Group – DATHYRCA (part of the DAHANCA organization), 1 Jan 2019, In: Endocrine Connections. 8, 1, p. 1-7 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access8 Citations (Scopus) -
Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L., Godballe, C. & Danish Thyroid Cancer Group (DATHYRCA), Mar 2019, In: Thyroid. 29, 3, p. 368-377 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile49 Citations (Scopus)74 Downloads (Pure) -
2018
Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., 12 Oct 2018, In: Clinical epidemiology. 10, p. 1479-1487 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access20 Citations (Scopus) -
Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Djurhuus, B. D., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C. & 1 others, , 1 Jun 2018, In: Endocrine Connections. 7, 6, p. 829-839 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access37 Citations (Scopus) -
2017
Distribution of RET mutations in multiple endocrine neoplasia 2 in Denmark 1994-2014: a nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Krag, K. S., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Gaustadnes, M., Ørntoft, T. F., Hansen, T. V. O., Nielsen, F. C., Brixen, K., Godballe, C. & Frederiksen, A. L., 1 Feb 2017, In: Thyroid : official journal of the American Thyroid Association. 27, 2, p. 215-223 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
28 Citations (Scopus) -
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
Groth, K., Von Kodolitsch, Y., Kutsche, K., Gaustadnes, M., Thorsen, K., Andersen, N. H. & Gravholt, C. H., 1 Jul 2017, In: Genetics in Medicine. 19, 7, p. 772-777 6 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
35 Citations (Scopus) -
Founder effect of the RET C611Y mutation in multiple endocrine neoplasia 2A in Denmark: A nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Gaustadnes, M., Ørntoft, T. F., Rossing, M., Nielsen, F. C., Albrechtsen, A., Brixen, K., Godballe, C. & Frederiksen, A. L., 1 Dec 2017, In: Thyroid : official journal of the American Thyroid Association. 27, 12, p. 1505-1510 6 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
18 Citations (Scopus) -
Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study
Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Madsen, M., Krag, K. S., Poulsen, P. L., Krogh Rasmussen, Å., Feldt-Rasmussen, U., Schytte, S., Pedersen, H. B., Hahn, C. H., Bentzen, J., Gaustadnes, M., Ørntoft, T. F., Hansen, T. V. O., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., 1 Jul 2017, In: Endocrine - Related Cancer. 24, 7, p. L39-L42Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
35 Citations (Scopus) -
2016
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia
Sørensen, J. T., Gaustadnes, M., Stabler, S. P., Allen, R. H., Mudd, S. H. & Hvas, A.-M., Mar 2016, In: Molecular Genetics and Metabolism. 117, 3, p. 344–350Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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2015
An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene
Dinesen, P. T., Dal, J., Gabrovska, P., Gaustadnes, M., Gravholt, C. H., Stals, K., Denes, J., Asa, S. L., Korbonits, M. & Jørgensen, J. O. L., 2015, In: Endocrinology, Diabetes & Metabolism Case Reports. 2015, p. 140105Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Difficulties in diagnosing Marfan syndrome using current FBN1 databases
Groth, K. A., Gaustadnes, M., Thorsen, K., Østergaard, J. R., Jensen, U. B., Gravholt, C. H. & Andersen, N. H., 26 Mar 2015, In: Genetics in Medicine.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
15 Citations (Scopus) -
Prevalence, incidence, and age at diagnosis in Marfan Syndrome
Groth, K. A., Hove, H., Kyhl, K., Folkestad, L., Gaustadnes, M., Vejlstrup, N., Krag, K. S., Østergaard, J. R., Andersen, N. H. & Gravholt, C. H., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 153Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
127 Citations (Scopus) -
2014
Genetisk screening for mutation muliggør tidlig diagnostik af hypofyseadenomer
Dal, J., Gaustadnes, M., Kristensen, K., Gravholt, C. H. & Jørgensen, J. O. L., 6 Jan 2014, In: Ugeskrift for Læger. 176, 1, p. 54-57 4 p., V09120529.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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2010
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency
Skovby, F., Gaustadnes, M. & Mudd, S. H., 2010, In: Molecular Genetics and Metabolism. 99, 1, p. 1-3 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
117 Citations (Scopus) -
Leiden Open Variation Database of the MUTYH gene
Out, A. A., Tops, C. M. J., Nielsen, M., Weiss, M. M., van Minderhout, I. J. H. M., Fokkema, I. F. A. C., Buisine, M.-P., Claes, K., Colas, C., Fodde, R., Fostira, F., Franken, P. F., Gaustadnes, M., Heinimann, K., Hodgson, S. V., Hogervorst, F. B. L., Holinski-Feder, E., Lagerstedt-Robinson, K., Olschwang, S. & van den Ouweland, A. M. W. & 11 others, , 1 Nov 2010, In: Human Mutation. 31, 11, p. 1205-15 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
68 Citations (Scopus) -
2008
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis
Thorsen, K., Sørensen, K. D., Brems-Eskildsen, A. S., Modin, C., Gaustadnes, M., Hein, A.-M. K., Kruhøffer, M., Laurberg, S., Borre, M., Wang, K., Brunak, S., Krainer, A. R., Tørring, N., Dyrskjøt, L., Andersen, C. L. & Ørntoft, T. F., 2008, In: Molecular and Cellular Proteomics. 7, 7, p. 1214-24 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
186 Citations (Scopus) -
2007
Diversity of cystathionine ß-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Vyletal, P., Sokolová, J., Cooper, D., Kraus, J., Krawczak, M., Pepe, G., Rickards, O., Koch, H., Kluijtmans, L., Blom, H., Boers, G., Gaustadnes, M., Skovby, F., Wilcken, B., Wilcken, D., Andria, G., Sebastio, G., Naughten, E., Yap, S. & Ohura, T. & 3 others, , 2007, In: Human Mutation. 28, 3, p. 255-264 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
18 Citations (Scopus) -
2006
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, T. F., Jensen, J. L. & Tørring, N., 2006, In: Human Mutation. 27, 2, p. 187-194 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
18 Citations (Scopus) -
2002
High homocysteine and thrombosis without connective tissue disorders associated with a novel class of cystathionine beta-synthase (CBS) mutations
Maclean, K. N., Gaustadnes, M., Oliveriusova, J., Janosik, M., Kraus, E., Kozich, V., Kery, V., Skovby, F., Rudiger, N., Ingerslev, J., Stabler, S. P., Allen, R. H. & Kraus, J. P., 2002, In: Hum Mutat. 19, 6, p. 641-655 15 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
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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, J. P. & Wilcken, D. E., 2002, In: Hum Mutat. p. 734-728Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
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2001
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
Janosik, M., Kery, V., Gaustadnes, M., Maclean, K. & Kraus, J., 2001, In: Biochemistry. 40, 35, p. 10625-33 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
147 Citations (Scopus) -
2000
Familial thrombophilia associated with homozygosity for the cystathionine betasynthase 833 T-> mutation
Gaustadnes, M., Rüdiger, N., Rasmussen, K. A. & Ingerslev, J., 2000, In: Arterioscl Thromb Vasc Biol. 20, p. 1392-1395 4 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
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Intermediate and severe hyperhomocysteinemia with thrombosis. A study af genetic determinants
Gaustadnes, M., Rasmussen, K., Rüdiger, N. A. & Ingerslev, J., 2000, In: Thromb. Haemostas.. 83, p. 554-558 5 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
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Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis
Larsen, T., Nørgaard-Pedersen, B., Lundemose, J., Rüdiger, N., Gaustadnes, M. & Brandslund, I., 2000, In: Thrombosis Research. 98, 4, p. 233-9 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
11 Citations (Scopus) -
1999
Cystathionine beta- synthase mutations in homocystinuria
Kraus, J., Janosik, M., Kozich, V., Mandell, R., Shih, V., Sperandeo, M., Sebastio, G., de Franchis, R., Andria, G., Kluijtmans, L., Blom, H., Boers, G., Gordon, R., Kamoun, P., Tsai, M., Kruger, W., Koch, H., Ohura, T. & Gaustadnes, M., 1999, In: Human Mutation. 13, 5, p. 362-75 14 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
278 Citations (Scopus) -
Prevalence of congenital homocystinuria in Denmark
Gaustadnes, M., Ingerslev, J. & Rüdiger, N., 1999, In: N. Engl. J. Med.. 340, 19, p. 1513 1 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
53 Citations (Scopus) -
Thrombophillic predisposition in venous thromboembolism and stroke in Danish patients
Gaustadnes, M., Rüdiger, N., Møller, J., Larsen, T. B. & Ingerslev, J., 1999, In: Blood Coagulation and Fibrinolysis. 10, 5, p. 251-9 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
50 Citations (Scopus) -
1998
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method
Gaustadnes, M., Kluijtmans, L. A., Jensen, O. K., Rasmussen, K., Heil, S. G., Kraus, J. P., Blom, H. J., Ingerslev, J., Rüdiger, N. & Jensen, O. K., 17 Jul 1998, In: FEBS Letters. 431, 2, p. 175-9 5 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
14 Citations (Scopus) -
Detection of a novel deletion in the cystathionine beta- synthase (CBS) gene using an improved genomic DNA based method
Gaustadnes, M., Kluijtmans, L., Kudsk Jensen, O., Rasmussen, K., Heil, S., Kraus, J., Blom, H., Ingerslev, J. & Rüdiger, N., 1998, In: FEBS Letters. 431, p. 175-9 5 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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The 20210 A allele of the prothrombin gene is not a risk factor for juvenile stroke in the Danish population
Gaustadnes, M., Rüdiger, N. & Ingerslev, J., 1998, In: Blood Coagulation and Fibrinolysis. 9, p. 663-4 2 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
7 Citations (Scopus) -
1997
Intestinal interleukin-8 concentrations and gene expression in inflammatory bowel disease
Nielsen, O., Rudiger, N., Gaustadnes, M. & Horn, T., 1997, In: Scandinavian Journal of Gastroenterology. 32, p. 1028-34 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
55 Citations (Scopus) -
1996
Human blood eosinophils produce and secrete interleukin 4
Bjerke, T., Gaustadnes, M., Nielsen, S., Nielsen, L. P., Schiøtz, P. O., Rudiger, N., Reimert, C. M., Dahl, R., Christensen, E. & Poulsen, L. K., May 1996, In: Respiratory Medicine. 90, 5, p. 271-7 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
43 Citations (Scopus) -
Human blood eosinophils produce and secrete interleukin-4
Bjerke, T., Gaustadnes, M., Nielsen, S., Nielsen, L., Schiøtz, P. O., Rüdiger, N., Reimert, C., Dahl, R., Christensen, E. & Poulsen, L., 1996, In: Respiratory Medicine. 90, 5, p. 271-7 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
43 Citations (Scopus)