Lista de obras - Klaus Brusgaard - Dominio Público Uruguay

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

artículo científico publicado en 1997

A polymorphic mink (Mustela vison) dinucleotide repeat.

artículo científico publicado en 1998

A polymorphic trinucleotide microsatellite in cattle: BtDIAS1.

artículo científico publicado en 1996

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2017

CYP2D6 genotype determination in the Danish population

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Congenital hyperinsulinism--diagnosis and treatment

artículo científico publicado en 2011

Congenital hyperinsulinism--new causes and clinical variations

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

Genetic diversity and population structure of 20 North European cattle breeds

artículo científico publicado en 2000

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

artículo científico publicado en 2010

Hamartomatous polyposis syndromes: a review

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

artículo científico publicado en 2011

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?

artículo científico publicado en 2012

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

artículo científico publicado en 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'.

artículo científico publicado en 2018

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2001

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

artículo científico publicado en 2013

New mutations in APOB100 involved in familial hypobetalipoproteinemia

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2021

Phenotype Presentation of Hypophosphatemic Rickets in Adults

artículo científico publicado en 2010

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

artículo científico publicado en 2000

Rapid Genetic Analysis in Congenital Hyperinsulinism

article

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

Three polymorphic mink, Mustela vison, dinucleotide repeats

artículo científico publicado en 1998

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 1999

Two polymorphic mink (Mustela vison) dinucleotide repeat loci

artículo científico publicado en 1998

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

artículo científico

[Congenital hyperinsulinism]

artículo científico publicado en 2001

Lista de obras de Klaus Brusgaard

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

A polymorphic mink (Mustela vison) dinucleotide repeat.

A polymorphic trinucleotide microsatellite in cattle: BtDIAS1.

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

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

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

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

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

CYP2D6 genotype determination in the Danish population

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

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

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

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

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

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

Congenital hyperinsulinism--diagnosis and treatment

Congenital hyperinsulinism--new causes and clinical variations

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

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

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

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

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

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

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

Genetic diversity and population structure of 20 North European cattle breeds

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

Hamartomatous polyposis syndromes: a review

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

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

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

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

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

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

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

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

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'.

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

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

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

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

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

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

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

New mutations in APOB100 involved in familial hypobetalipoproteinemia

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

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

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

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

Phenotype Presentation of Hypophosphatemic Rickets in Adults

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

Rapid Genetic Analysis in Congenital Hyperinsulinism

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

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

Research participants in NGS studies want to know about incidental findings

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

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

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

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

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

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

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

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

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

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

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

Three polymorphic mink, Mustela vison, dinucleotide repeats

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

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

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

Two polymorphic mink (Mustela vison) dinucleotide repeat loci

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

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

[Congenital hyperinsulinism]