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List of works by Klaus Brusgaard

A polymorphic dinucleotide microsatellite in rainbow trout (Onchorhynchus mykiss): OmDIAS1.

scientific article published in August 1997

A polymorphic mink (Mustela vison) dinucleotide repeat.

scientific article

A polymorphic trinucleotide microsatellite in cattle: BtDIAS1.

scientific article published in October 1996

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation

scientific article published in May 2008

Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia

scientific article published on 9 October 2012

Arrayed primer extension in the "array of arrays" format: a rational approach for microarray-based SNP genotyping

scientific article published in January 2007

Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis

scientific article published on 13 April 2012

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study

scientific article published on 10 July 2017

CYP2D6 genotype determination in the Danish population

scientific article published in January 1994

Chromosomal and regional localization of the loci for IGKC, IGGC, ALDB, HOXB, GPT, and PRNP in the American mink (Mustela vison): comparisons with human and mouse

scientific article published in October 1995

Chromosome Localization of the Gene for Growth Hormone in the Common Shrew (Sorex Araneus)

article

Chromosome localization of the genes for growth hormone, somatostatin peptide, ornithine transcarbamylase, and prion protein in silver fox (Vulpes fulvus)

article

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

scientific article published in October 2005

Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies

scientific article published on 27 April 2007

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

scientific article

Correspondence analysis of microarray time-course data in case-control design

scientific article published in October 2004

Discovery of molecular pathways mediating 1,25-dihydroxyvitamin D3 protection against cytokine-induced inflammation and damage of human and male mouse islets of Langerhans

scientific article

Effect of insulin on protein phosphatase 2A expression in muscle in type 2 diabetes

scientific article published in December 2002

Expression profiling of insulin action in human myotubes: induction of inflammatory and pro-angiogenic pathways in relationship with glycogen synthesis and type 2 diabetes

scientific article published in October 2004

Frequencies of genes for coat colour and horns in Nordic cattle breeds

scientific article published in November 2000

Functional and immunohistochemical evaluation of porcine neonatal islet-like cell clusters.

scientific article published in January 2003

Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS)

scientific article (publication date: 2013)

Genetic diversity and population structure of 20 North European cattle breeds

scientific article published in November 2000

Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark

scientific article published on 25 May 2010

Hamartomatous polyposis syndromes: a review

scientific article

Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes

scientific article published on 12 November 2012

Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic β-Cell Adenosine Triphosphate-Sensitive Potassium Channels

scientific article published on 05 April 2005

Incidence, etiology and prognosis of first-time acute pancreatitis in young patients: a population-based cohort study

scientific article published on 19 August 2010

Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study

scientific article published on 28 January 2010

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

scientific article

Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism

scientific article published on 22 August 2018

Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?

scientific article published in March 2012

Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy

scientific article published in October 2004

Letter to the Editor regarding the paper by N. Azzam et al. 'Germline polymorphisms on RET proto-oncogene involved in medullary thyroid carcinoma in a Druze family'.

scientific article published on 9 February 2018

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

scientific article

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia

scientific article published in March 2006

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

scientific article

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.

scientific article published on 14 June 2012

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

scientific article published in December 2004

Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families

scientific article

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

scientific article published on 3 October 2013

New mutations in APOB100 involved in familial hypobetalipoproteinemia

scientific article published in 2010

New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family

article

No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: a descriptive study

scientific article published on 25 September 2007

Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks

scientific article

Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only

scientific article published on 12 June 2021

Phenotype Presentation of Hypophosphatemic Rickets in Adults

scientific article published on 04 June 2010

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

scientific article published in July 2000

Rapid Genetic Analysis in Congenital Hyperinsulinism

article

Recurrent spontaneous hypoglycaemia causes loss of neurogenic and neuroglycopaenic signs in infants with congenital hyperinsulinism

scientific article published in April 2012

Reduced Expression of Nuclear-Encoded Genes Involved in Mitochondrial Oxidative Metabolism in Skeletal Muscle of Insulin-Resistant Women With Polycystic Ovary Syndrome

article

Research participants in NGS studies want to know about incidental findings

scientific article

Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism

scientific article published in October 2005

Severe arterial thrombosis in a family with type III protein S deficiency caused by a frameshift mutation in the PROS1 gene

article

Significantly higher adrenocorticotropin-stimulated cortisol and 17-hydroxyprogesterone levels in 337 consecutive, premenopausal, caucasian, hirsute patients compared with healthy controls

scientific article published on 14 December 2004

Spotting and validation of a genome wide oligonucleotide chip with duplicate measurement of each gene

scientific article published on 19 April 2006

Testosterone treatment increases androgen receptor and aromatase gene expression in myotubes from patients with PCOS and controls, but does not induce insulin resistance

scientific article

The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center

scientific article published on 29 January 2020

The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1

scientific article (publication date: 2 February 2011)

The primary defect in glycogen synthase activity is not based on increased glycogen synthase kinase-3alpha activity in diabetic myotubes

scientific article published on July 2004

The role of SLC2A1 in early onset and childhood absence epilepsies.

scientific article published on 8 January 2013

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

scientific article published in April 2002

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

scientific article published in May 2009

Three polymorphic mink, Mustela vison, dinucleotide repeats

scientific article published on 01 April 1998

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

scientific article published on 21 February 2019

Transcriptional profiling of myotubes from patients with type 2 diabetes: no evidence for a primary defect in oxidative phosphorylation genes

scientific article published on 22 August 2008

Two polymorphic dinucleotide repeats in rainbow trout (Oncorhynchus mykiss).

scientific article published in April 1999

Two polymorphic mink (Mustela vison) dinucleotide repeat loci

scientific article

Unraveling the effects of 1,25(OH)2D3 on global gene expression in pancreatic islets

article

Vitamin D and diabetes: its importance for beta cell and immune function

scientific article published on 26 August 2011

[Congenital hyperinsulinism--diagnosis and treatment]

scientific article published on 01 November 2011

[Congenital hyperinsulinism--new causes and clinical variations]

scientific article published on 01 November 2011

[Congenital hyperinsulinism]

scientific article

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