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Lista de obras de Stefan Johansson

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

artículo científico publicado en 2021

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 coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes

article

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

artículo científico publicado en 2010

A genome-wide association study of bipolar disorder and comorbid migraine

artículo científico publicado en 2010

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 high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16.

artículo científico publicado en 2008

A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder

artículo científico publicado en 2008

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes

artículo científico publicado en 2013

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

artículo científico publicado en 2015

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

artículo científico publicado en 2016

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I

article

An international multicenter association study of the serotonin transporter gene in persistent ADHD.

artículo científico publicado en 2010

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis

artículo científico publicado en 2015

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

artículo científico publicado en 2013

Association between catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in adults

artículo científico publicado en 2009

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

artículo científico publicado en 2019

Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival

artículo científico publicado en 2017

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder ⬇️

scientific article published on 17 October 2019

Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production

artículo científico publicado en 2010

Bipolar disorder risk alleles in adult ADHD patients

scientific article published on 18 February 2011

Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder

artículo científico publicado en 2014

Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder

artículo científico publicado en 2009

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes

artículo científico publicado en 2016

Common variants in the ARC gene are not associated with cognitive abilities

artículo científico publicado en 2015

Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations

artículo científico publicado en 2010

Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer

artículo científico publicado en 2016

DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder

artículo científico publicado en 2012

DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders.

artículo científico publicado en 2012

DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders

artículo científico publicado en 2011

DISC1 in adult ADHD patients: an association study in two European samples

artículo científico publicado en 2013

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

artículo científico publicado en 2015

Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease

artículo científico publicado en 2011

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

scientific journal article

Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction

artículo científico publicado en 2014

Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE.

artículo científico publicado en 2015

Erratum: The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes

article

Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study) ⬇️

artículo científico publicado el 4 de febrero de 2011

Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and –DRB1

artículo científico publicado en 2003

Exome chip analyses in adult attention deficit hyperactivity disorder.

artículo científico publicado en 2016

Exome sequencing and genetic testing for MODY.

artículo científico publicado en 2012

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

artículo científico publicado en 2013

Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes?

artículo científico publicado en 2015

Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four European populations

artículo científico publicado en 2011

Extra-intestinal manifestations associated with irritable bowel syndrome: a twin study

artículo científico publicado en 2002

FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies

artículo científico publicado en 2011

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

artículo científico publicado en 2012

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

artículo científico publicado en 2016

Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients

artículo científico publicado en 2013

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

artículo científico publicado en 2018

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

artículo científico publicado en 2017

GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

artículo científico publicado en 2021

Genetic analyses of dopamine related genes in adult ADHD patients suggest an association with the DRD5-microsatellite repeat, but not with DRD4 or SLC6A3 VNTRs

artículo científico publicado en 2008

Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study).

artículo científico publicado en 2008

Genetic association study of childhood aggression across raters, instruments, and age

artículo científico publicado en 2021

Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

artículo científico publicado en 2014

Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder

artículo científico publicado en 2016

Genome-wide analysis of attention deficit hyperactivity disorder in Norway

artículo científico publicado en 2015

Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth

artículo científico publicado en 2019

Glutamate cysteine ligase (GCL) and self reported depression: an association study from the HUNT.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

HLA associations in type 1 diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes

artículo científico publicado en 2003

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

artículo científico publicado en 2015

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

artículo científico publicado en 2014

Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications

artículo científico publicado en 2015

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

artículo científico publicado en 2015

Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

article

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

artículo científico publicado en 2017

Introducing M-GCTA a Software Package to Estimate Maternal (or Paternal) Genetic Effects on Offspring Phenotypes

artículo científico publicado en 2019

Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis

artículo científico publicado en 2016

Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes

artículo científico publicado en 2006

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature

artículo científico publicado en 2014

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

artículo científico publicado en 2014

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

artículo científico publicado en 2013

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

artículo científico publicado en 2019

Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations.

artículo científico publicado en 2010

Meta-analysis of the DRD5 VNTR in persistent ADHD.

artículo científico publicado en 2016

Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC

artículo científico publicado en 2018

Molecular diagnostics in diabetes mellitus

artículo científico publicado en 2005

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD.

artículo científico publicado en 2009

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

artículo científico publicado en 2010

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific journal article

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

artículo científico publicado en 2017

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

artículo científico publicado en 2005

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes

artículo científico publicado en 2009

No association between the serotonin transporter gene polymorphism 5-HTTLPR and cyclothymic temperament as measured by TEMPS-A.

artículo científico publicado en 2010

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

artículo científico publicado en 2018

No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complex

artículo científico publicado en 2003

Novel Loci Associated With Attention-Deficit/Hyperactivity Disorder Are Revealed by Leveraging Polygenic Overlap With Educational Attainment

artículo científico publicado en 2017

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.

artículo científico publicado en 2016

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2013

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

artículo científico publicado en 2016

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

artículo científico publicado en 2020

On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis

artículo científico publicado en 2015

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

artículo científico publicado en 2016

Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3

article published in 2007

PathwayMatcher: proteoform-centric network construction enables fine-granularity multiomics pathway mapping

artículo científico publicado en 2019

Patients with irritable bowel syndrome in primary care appear not to be heavy healthcare utilizers

artículo científico publicado en 2006

Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children

artículo científico publicado en 2011

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes

artículo científico publicado en 2009

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

artículo científico publicado en 2020

Prevalence ofHNF1A(MODY3) mutations in a Norwegian population (the HUNT2 Study)

artículo científico publicado en 2008

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling

artículo científico publicado en 2013

SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder

artículo científico publicado en 2017

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

artículo científico publicado en 2014

Severe gastro-oesophageal reflux symptoms in relation to anxiety, depression and coping in a population-based study

artículo científico publicado en 2007

Shared genetic background between children and adults with attention deficit/hyperactivity disorder

scientific article published on 12 April 2020

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

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 Chromosome 9p21 CVD- and T2D-Associated Regions in a Norwegian Population (The HUNT2 Survey)

artículo científico publicado en 2015

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

artículo científico publicado en 2017

The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes

artículo científico publicado en 2006

The genetic architecture of sporadic and multiple consecutive miscarriage

scientific article published on 25 November 2020

The genetics of attention deficit/hyperactivity disorder in adults, a review

artículo científico publicado en 2012

The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis

article

The polymorphism in the 3' untranslated region of IL12B has a negligible effect on the susceptibility to develop type 1 diabetes in Norway

artículo científico publicado en 2001

The role of the carboxyl ester lipase (CEL) gene in pancreatic disease

artículo científico publicado en 2017

Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing

artículo científico publicado en 2021

Two New Mutations in the <i>CEL</i> Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases

artículo científico publicado en 2021

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

article

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

artículo científico publicado en 2019

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation

scientific article published on 06 February 2013

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