Lista de obras -

35th Annual Meeting of the European Association for the Study of Diabetes

artículo científico

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry

artículo científico publicado en 2006

A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young ⬇️

artículo científico publicado el 1 de agosto de 1998

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

artículo científico publicado en 1999

A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene

artículo científico publicado en 2000

Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation

scientific article published on 08 June 2007

Binding of ATP at the active site of human pancreatic glucokinase – nucleotide‐induced conformational changes with possible implications for its kinetic cooperativity ⬇️

artículo científico publicado el 31 de mayo de 2011

Birth weight and childhood onset type 1 diabetes: population based cohort study

artículo científico publicado en 2001

Can type 1 diabetes be prevented?

artículo científico publicado el 30 de septiembre de 1992

Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions

artículo científico publicado en 2008

Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria

artículo científico publicado en 2008

Contributions to the MODY5 phenotype

scientific article published on 01 November 2002

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

artículo científico publicado en 2009

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

artículo científico publicado en 2007

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

artículo científico publicado en 2009

Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy

artículo científico publicado en 1977

Diagnosis and treatment of congenital hyperinsulinism--to Paris at any price?

artículo científico publicado en 2001

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry

artículo científico publicado en 2008

Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus

artículo científico publicado en 2005

Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers

artículo científico publicado en 2003

Evaluation of a programme of group visits and computer-assisted consultations in the treatment of adolescents with Type 1 diabetes

artículo científico publicado en 2005

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

artículo científico publicado en 2004

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

artículo científico publicado en 2011

Fear of hypoglycaemia in mothers and fathers of children with Type 1 diabetes is associated with poor glycaemic control and parental emotional distress: a population-based study

artículo científico publicado en 2010

Fluid management and the risk of cerebral oedema in children with diabetic ketoacidosis

artículo científico publicado en 2005

From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation

artículo científico publicado en 2006

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation

artículo científico publicado en 2013

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation

artículo científico publicado en 2012

Generalized edema following insulin treatment of newly diagnosed diabetes mellitus

artículo científico publicado en 2001

Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n−3 fatty acids ⬇️

artículo científico publicado el 1 de agosto de 1998

Gluconeogenesis in infancy and childhood. II. Studies on the glucose production from alanine in three cases of persistent neonatal hypoglycaemia

artículo científico publicado el 1 de mayo de 1976

Glyceroluria with adrenocortical insufficiency, developmental delay and early death

artículo científico publicado en 1988

Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release

artículo científico publicado en 2015

Good metabolic control is associated with better quality of life in 2,101 adolescents with type 1 diabetes

artículo científico publicado en 2001

HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection

artículo científico publicado en 1997

HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection

HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

artículo científico publicado en 2011

Health-related quality of life and metabolic control in adolescents with diabetes: the role of parental care, control, and involvement

artículo científico publicado en 2005

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway

artículo científico publicado en 2003

Hundre år med insulin

artículo científico publicado en 2020

Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family

artículo científico publicado en 2002

Hyperexcitability to sulphonylurea in MODY3 ⬇️

artículo científico publicado el 1 de mayo de 1998

Incidence, age at onset and seasonal variation of diabetes mellitus in Norwegian children, 1973-1977.

artículo científico publicado en 1981

Increasing incidence of diabetes mellitus in Norwegian children 0-14 years of age 1973-1982.

artículo científico publicado en 1989

Insulin injection regimens and metabolic control in an international survey of adolescents with type 1 diabetes over 3 years: results from the Hvidore study group

artículo científico publicado en 2002

Insulin management and metabolic control of type 1 diabetes mellitus in childhood and adolescence in 18 countries. Hvidøre Study Group on Childhood Diabetes

artículo científico publicado en 1998

Intravenous enzyme substitution therapy in children with Fabry's disease

artículo científico publicado en 2003

Ketotic hypoglycemia in a four-year-old boy with adrenal cortical insufficiency

artículo científico publicado en 1972

Lack of pancreatic body and tail in HNF1B mutation carriers

artículo científico publicado en 2008

MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X)

scientific article published on 01 December 2000

Management of neonatal and infancy-onset diabetes mellitus

artículo científico publicado en 2007

Maternal and paternal age at delivery, birth order, and risk of childhood onset type 1 diabetes: population based cohort study

artículo científico publicado en 2001

Measuring self-reported, health-related, quality of life in adolescents with type 1 diabetes using both generic and disease-specific instruments

artículo científico publicado en 2003

Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

artículo científico publicado en 1997

Molecular diagnostics in diabetes mellitus

artículo científico publicado en 2005

Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway

artículo científico publicado en 2009

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

artículo científico publicado en 2005

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

artículo científico publicado en 2008

Nationwide, prospective registration of type 1 diabetes in children aged <15 years in norway 1989-1998: no increase but significant regional variation in incidence

artículo científico publicado en 2004

Neonatal diabetes mellitus due to complete glucokinase deficiency

artículo científico publicado en 2001

No association between preeclampsia or cesarean section and incidence of type 1 diabetes among children: a large, population-based cohort study

scientific article published on 18 June 2003

No difference in the parental origin of susceptibility HLA class II haplotypes among Norwegian patients with insulin-dependent diabetes mellitus

artículo científico publicado en 1995

No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM.

artículo científico publicado en 1997

Non-insulin dependent diabetes in children and adolescents

artículo científico publicado el 10 de marzo de 1998

Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase

scientific article published on 01 February 2007

Parent and health professional perspectives in the management of adolescents with diabetes: development of assessment instruments for international studies.

artículo científico publicado en 2006

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

artículo científico publicado en 2003

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

artículo científico publicado en 2004

Persistent differences among centers over 3 years in glycemic control and hypoglycemia in a study of 3,805 children and adolescents with type 1 diabetes from the Hvidøre Study Group

artículo científico publicado en 2001

Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers

artículo científico publicado en 2005

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

artículo científico publicado en 2013

Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis

scientific article published on 01 August 2002

SUMOylation of pancreatic glucokinase regulates its cellular stability and activity

artículo científico publicado en 2013

Significance of argyrophil parenchymal cells in the pancreatic islets in persistent neonatal hypoglycemia with hyperinsulinism of familial type

artículo científico publicado en 1981

Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged <15 years in Norway 1973-1982 and 1989-2003.

artículo científico

Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That Variants in the Hepatocyte Nuclear Factor 4 (HNF4A) P2 Region Are Associated With Type 2 Diabetes in Scandinavians

artículo científico publicado en 2007

Studies of insulin resistance in congenital generalized lipodystrophy

artículo científico publicado en 1996

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations

artículo científico publicado en 2006

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

artículo científico publicado en 2016

The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes

artículo científico publicado en 2017

The coping styles of adolescents with type 1 diabetes are associated with degree of metabolic control

artículo científico publicado en 2004

The genetic abnormality in the beta cell determines the response to an oral glucose load

artículo científico publicado en 2002

The impact of continuous subcutaneous insulin infusion on health-related quality of life in children and adolescents with type 1 diabetes

artículo científico publicado en 2006

The incidence of type 1 (insulin-dependent) diabetes mellitus 15-29 years in Norway 1978-1982.

artículo científico publicado en 1991

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

artículo científico publicado en 2009

Who discovered insulin?

artículo científico publicado en 2011

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome

artículo científico publicado en 2008

[Care of children and adolescents with diabetes mellitus in Norway. A questionnaire study among diabetic patients detected over a 5-year period]

artículo científico publicado en 1984

[Familial hypercholesterolemia in children. A management program. Procedures for diagnosis and treatment in our pediatric departments]

artículo científico publicado en 1995

[Genetic and immunologic risks for development of type 1 diabetes--experiences from an intervention trial]

artículo científico publicado en 2000

[Medical truth, what is it?]

scientific article published on 01 January 2003

[Progress in diabetes genetics]

artículo científico publicado en 2010

[Unexpected and unexplained deaths among young patients with diabetes mellitus]

artículo científico publicado en 2004

Lista de obras de

35th Annual Meeting of the European Association for the Study of Diabetes

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry

A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young ⬇️

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene

Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation

Binding of ATP at the active site of human pancreatic glucokinase – nucleotide‐induced conformational changes with possible implications for its kinetic cooperativity ⬇️

Birth weight and childhood onset type 1 diabetes: population based cohort study

Can type 1 diabetes be prevented?

Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions

Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria

Contributions to the MODY5 phenotype

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy

Diagnosis and treatment of congenital hyperinsulinism--to Paris at any price?

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry

Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus

Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers

Evaluation of a programme of group visits and computer-assisted consultations in the treatment of adolescents with Type 1 diabetes

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

Fear of hypoglycaemia in mothers and fathers of children with Type 1 diabetes is associated with poor glycaemic control and parental emotional distress: a population-based study

Fluid management and the risk of cerebral oedema in children with diabetic ketoacidosis

From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation

Generalized edema following insulin treatment of newly diagnosed diabetes mellitus

Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n−3 fatty acids ⬇️

Gluconeogenesis in infancy and childhood. II. Studies on the glucose production from alanine in three cases of persistent neonatal hypoglycaemia

Glyceroluria with adrenocortical insufficiency, developmental delay and early death

Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release

Good metabolic control is associated with better quality of life in 2,101 adolescents with type 1 diabetes

HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection

HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection

HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

Health-related quality of life and metabolic control in adolescents with diabetes: the role of parental care, control, and involvement

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway

Hundre år med insulin

Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family

Hyperexcitability to sulphonylurea in MODY3 ⬇️

Incidence, age at onset and seasonal variation of diabetes mellitus in Norwegian children, 1973-1977.

Increasing incidence of diabetes mellitus in Norwegian children 0-14 years of age 1973-1982.

Insulin injection regimens and metabolic control in an international survey of adolescents with type 1 diabetes over 3 years: results from the Hvidore study group

Insulin management and metabolic control of type 1 diabetes mellitus in childhood and adolescence in 18 countries. Hvidøre Study Group on Childhood Diabetes

Intravenous enzyme substitution therapy in children with Fabry's disease

Ketotic hypoglycemia in a four-year-old boy with adrenal cortical insufficiency

Lack of pancreatic body and tail in HNF1B mutation carriers

MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X)

Management of neonatal and infancy-onset diabetes mellitus

Maternal and paternal age at delivery, birth order, and risk of childhood onset type 1 diabetes: population based cohort study

Measuring self-reported, health-related, quality of life in adolescents with type 1 diabetes using both generic and disease-specific instruments

Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

Molecular diagnostics in diabetes mellitus

Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

Nationwide, prospective registration of type 1 diabetes in children aged <15 years in norway 1989-1998: no increase but significant regional variation in incidence

Neonatal diabetes mellitus due to complete glucokinase deficiency

No association between preeclampsia or cesarean section and incidence of type 1 diabetes among children: a large, population-based cohort study

No difference in the parental origin of susceptibility HLA class II haplotypes among Norwegian patients with insulin-dependent diabetes mellitus

No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM.

Non-insulin dependent diabetes in children and adolescents

Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase

Parent and health professional perspectives in the management of adolescents with diabetes: development of assessment instruments for international studies.

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

Persistent differences among centers over 3 years in glycemic control and hypoglycemia in a study of 3,805 children and adolescents with type 1 diabetes from the Hvidøre Study Group

Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis

SUMOylation of pancreatic glucokinase regulates its cellular stability and activity

Significance of argyrophil parenchymal cells in the pancreatic islets in persistent neonatal hypoglycemia with hyperinsulinism of familial type

Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged <15 years in Norway 1973-1982 and 1989-2003.

Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That Variants in the Hepatocyte Nuclear Factor 4 (HNF4A) P2 Region Are Associated With Type 2 Diabetes in Scandinavians

Studies of insulin resistance in congenital generalized lipodystrophy

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations