Klaus Brusgaard

Summary

Affiliation: Odense University Hospital
Country: Denmark

Publications

  1. doi New mutations in APOB100 involved in familial hypobetalipoproteinemia
    Klaus Brusgaard
    Department of Clinical Genetics, Odense University Hospital, Sdr Boulevard 29, DK 5000 Odense C, Denmark
    J Clin Lipidol 4:181-4. 2010
  2. ncbi Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia
    K Brusgaard
    Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Odense C, Denmark
    Clin Genet 69:277-83. 2006
  3. ncbi Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia
    K Brusgaard
    Department of Clinical Biochemistry and Molecular Genetics, Odense University Hospital, Odense C, Denmark
    Clin Genet 66:556-61. 2004
  4. doi Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark
    Maiken Thyregod Joergensen
    Department of Medical Gastroenterology, Odense University Hospital, University of Southern Denmark, Odense C, Denmark
    Am J Gastroenterol 105:1876-83. 2010
  5. pmc Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS)
    Mette B Eriksen
    Department of Endocrinology, Odense University Hospital, Odense, Denmark Department of Clinical Pathology, Odense University Hospital, Odense, Denmark Department of Clinical Research, University of Southern Denmark, Odense, Denmark
    PLoS ONE 8:e77186. 2013
  6. doi Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study
    Maiken Joergensen
    Department of Medical Gastroenterology S, Odense University Hospital, University of Southern Denmark, Sdr Boulevard 29, 5000, Odense C, Denmark
    Dig Dis Sci 55:2988-98. 2010
  7. ncbi Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia
    A D Kjeldsen
    Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark
    J Intern Med 258:349-55. 2005
  8. pmc Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis
    Maiken T Joergensen
    Department of Medical Gastroenterology, Odense University Hospital, University of Southern Denmark, Odense, Denmark
    Pancreas 40:540-6. 2011
  9. pmc Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia
    Pernille M Tørring
    Department of Clinical Genetics, Odense University Hospital, Odense, Denmark Otorhinolaryngology, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark
    PLoS ONE 9:e90272. 2014
  10. ncbi Correspondence analysis of microarray time-course data in case-control design
    Qihua Tan
    Odense University Hospital, Odense, Denmark
    J Biomed Inform 37:358-65. 2004

Collaborators

Detail Information

Publications26

  1. doi New mutations in APOB100 involved in familial hypobetalipoproteinemia
    Klaus Brusgaard
    Department of Clinical Genetics, Odense University Hospital, Sdr Boulevard 29, DK 5000 Odense C, Denmark
    J Clin Lipidol 4:181-4. 2010
    ..Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation...
  2. ncbi Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia
    K Brusgaard
    Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Odense C, Denmark
    Clin Genet 69:277-83. 2006
    ..We have acquired knowledge of the mutational spectra in the Danish population and thus will be able to trace mutations in their relatives through our index cases...
  3. ncbi Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia
    K Brusgaard
    Department of Clinical Biochemistry and Molecular Genetics, Odense University Hospital, Odense C, Denmark
    Clin Genet 66:556-61. 2004
    ..The method developed proved to be very sensitive for mutation detection in both ENG and ALK1. Genetic screening in HHT families facilitates an early treatment strategy for silent HHT manifestations in first degree relatives...
  4. doi Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark
    Maiken Thyregod Joergensen
    Department of Medical Gastroenterology, Odense University Hospital, University of Southern Denmark, Odense C, Denmark
    Am J Gastroenterol 105:1876-83. 2010
    ....
  5. pmc Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS)
    Mette B Eriksen
    Department of Endocrinology, Odense University Hospital, Odense, Denmark Department of Clinical Pathology, Odense University Hospital, Odense, Denmark Department of Clinical Research, University of Southern Denmark, Odense, Denmark
    PLoS ONE 8:e77186. 2013
    ..controls. Additional studies with independent cohort are needed to confirm this due to the small sample size of this study. ..
  6. doi Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study
    Maiken Joergensen
    Department of Medical Gastroenterology S, Odense University Hospital, University of Southern Denmark, Sdr Boulevard 29, 5000, Odense C, Denmark
    Dig Dis Sci 55:2988-98. 2010
    ....
  7. ncbi Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia
    A D Kjeldsen
    Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark
    J Intern Med 258:349-55. 2005
    ..HHT is a genetically heterogeneous disorder involving at least two loci; HHT 1 mapping to chromosome 9 q 34.1 (ENG) and HHT 2 mapping to chromosome 12 q 31 (ALK-1)...
  8. pmc Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis
    Maiken T Joergensen
    Department of Medical Gastroenterology, Odense University Hospital, University of Southern Denmark, Odense, Denmark
    Pancreas 40:540-6. 2011
    ..K23_I24insIDK). The aim of the present study was to characterize the effect of this unique genetic alteration on the function of human cationic trypsinogen...
  9. pmc Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia
    Pernille M Tørring
    Department of Clinical Genetics, Odense University Hospital, Odense, Denmark Otorhinolaryngology, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark
    PLoS ONE 9:e90272. 2014
    ..A deeper understanding of lncRNAs and their role in telangiectasia formation possesses potential for discovering therapeutic targets in HHT. ..
  10. ncbi Correspondence analysis of microarray time-course data in case-control design
    Qihua Tan
    Odense University Hospital, Odense, Denmark
    J Biomed Inform 37:358-65. 2004
    ..We conclude that our correspondence analysis based approach can be a useful tool for analyzing high dimensional microarray data collected in clinical investigations...
  11. ncbi Spotting and validation of a genome wide oligonucleotide chip with duplicate measurement of each gene
    Mads Thomassen
    Department of Biochemistry, Pharmacology, and Genetics, Odense University Hospital and Human Microarray Centre, University of Southern Denmark, Odense, Denmark
    Biochem Biophys Res Commun 344:1111-20. 2006
    ..6%. Relative quantitation was more reproducible than absolute quantitation and substantial reduction of variance was attained with duplicate spotting. An analysis of variance (ANOVA) demonstrated no significant day-to-day variation...
  12. ncbi The primary defect in glycogen synthase activity is not based on increased glycogen synthase kinase-3alpha activity in diabetic myotubes
    Michael Gaster
    Department of Endocrinology, Odense University Hospital, Odense, Denmark
    Biochem Biophys Res Commun 319:1235-40. 2004
    ..In conclusion, myotubes with a primary defect in GS activity express insulin responsive GSK-3alpha, suggesting that failure of insulin to decrease GS phosphorylation involves abnormal activity of another kinase or phosphatase...
  13. ncbi Significantly higher adrenocorticotropin-stimulated cortisol and 17-hydroxyprogesterone levels in 337 consecutive, premenopausal, caucasian, hirsute patients compared with healthy controls
    D Glintborg
    Odense University Hospital, Department of Endocrinology, Kløvervaenget 10, 3, 5000 Odense C, Denmark
    J Clin Endocrinol Metab 90:1347-53. 2005
    ..To investigate whether elevated ACTH-stimulated 17-hydroxyprogesterone (17OHP) levels are caused by CYP21 genetic defects or by a general adrenal hyperresponsiveness in hirsute patients...
  14. doi Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets
    Signe S Beck-Nielsen
    Institute of Clinical Research, University of Southern Denmark, Odense C, Denmark
    J Hum Genet 57:453-8. 2012
    ..Genetic analysis performed in HR patients by PCR, dHPLC, sequencing and in addition by MLPA analysis revealed a high identification rate of gene mutations causing HR, including 12 novel PHEX and one novel DMP1 mutation...
  15. ncbi [Congenital hyperinsulinism--diagnosis and treatment]
    Henrik Thybo Christesen
    H C Andersen Børnehospital, Odense Universitetshospital, Sdr Boulevard 29, 5000 Odense C, Denmark
    Ugeskr Laeger 173:3020-5. 2011
    ..Milder CHI, sometimes difficult to diagnose, is treated conservatively. In spite of all improvements, cerebral complications are still frequently seen...
  16. doi Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis
    Mette B Eriksen
    Department of Endocrinology, Odense University Hospital, 5000 Odense C, Denmark
    Eur J Obstet Gynecol Reprod Biol 163:39-42. 2012
    ..Polycystic ovary syndrome (PCOS) is the most common endocrine disease among premenopausal women. A recent study found association between three single nucleotide polymorphisms (SNPs) and PCOS in a cohort of Han Chinese women...
  17. ncbi Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation
    Henrik B T Christesen
    HC Andersen Children s Hospital, Odense University Hospital, DK 5000 Odense C, Denmark
    Eur J Endocrinol 159:27-34. 2008
    ..Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known...
  18. doi Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia
    Pernille M Tørring
    Department of Clinical Genetics, Odense University Hospital, University of Southern Denmark, Odense C, Denmark
    Genet Test Mol Biomarkers 16:1419-23. 2012
    ..We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG) initially seemed to be homozygous for the mutation...
  19. doi Incidence, etiology and prognosis of first-time acute pancreatitis in young patients: a population-based cohort study
    Maiken Joergensen
    Department of Medical Gastroenterology, Odense University Hospital, University of Southern Denmark, Odense, Denmark
    Pancreatology 10:453-61. 2010
    ....
  20. ncbi No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: a descriptive study
    Mads Nybo
    Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, Sdr Boulevard 29, DK 5000 Odense, Denmark
    Clin Biochem 40:1347-52. 2007
    ..In order to enable clinicians to refer the right persons suspected of familial hypercholesterolemia (FH) for mutation screening, a retrospective study was conducted in a Danish FH cohort...
  21. ncbi The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy
    Henrik B T Christesen
    Department of Pediatrics, Odense University Hospital, Odense, Denmark
    Diabetes 51:1240-6. 2002
    ..Mathematical modeling predicted a markedly lowered GSIR threshold of 1.5 mmol/l. The theoretical and practical implications are manifold and significant...
  22. ncbi Arrayed primer extension in the "array of arrays" format: a rational approach for microarray-based SNP genotyping
    Niels G F Klitø
    Department of Biochemistry, Pharmacology and Genetics, Human MicrroArray Centre, Odense University Hospital, Odense, DK 5000 Odense C, Denmark
    Genet Test 11:160-6. 2007
    ....
  23. ncbi Functional and immunohistochemical evaluation of porcine neonatal islet-like cell clusters
    T B Nielsen
    Department of Medical Endocrinology, Odense University Hospital, Denmark
    Cell Transplant 12:13-25. 2003
    ..There was a potential for expansion of the beta-cell mass of NICCs in vitro as well as in vivo where NICCs eventually may normalize blood glucose of diabetic mice...
  24. ncbi Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families
    A D Kjeldsen
    Genetic Epidemiologic Research Unit, Odense University, 5000 Odense C, Denmark
    Am J Med Genet 98:298-302. 2001
    ..No mutations in the endoglin locus were found in either family...
  25. pmc Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
    R Thiart
    MRC Cape Heart Group, Division of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa
    J Med Genet 37:514-9. 2000
    ..Detection of the 6 bp deletion in Xhosa, Pedi, and Tswana FH patients suggests that it is an ancient mutation predating tribal separation approximately 3000 years ago...
  26. ncbi [Congenital hyperinsulinism]
    H B Christesen
    Odense Universitetshospital, paediatrisk afdeling H og klinisk genetisk afdeling
    Ugeskr Laeger 163:2354-8. 2001
    ..Genetic screening has succeeded in detecting mutations in less than 50% of HI-patients. Genotype-phenotype relations, diagnosis and treatment are reviewed...