Published in Diabetes on January 01, 2003
Tissue-specific disallowance of housekeeping genes: the other face of cell differentiation. Genome Res (2010) 1.67
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
miR-29a and miR-29b contribute to pancreatic beta-cell-specific silencing of monocarboxylate transporter 1 (Mct1). Mol Cell Biol (2011) 1.55
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab (2012) 1.49
Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol (2012) 1.28
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26
Validation of the in vivo assessment of pyruvate dehydrogenase activity using hyperpolarised 13C MRS. NMR Biomed (2010) 1.25
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. J Clin Endocrinol Metab (2016) 1.23
Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. Int J Pediatr Endocrinol (2013) 1.17
Congenital hyperinsulinism: current status and future perspectives. Ann Pediatr Endocrinol Metab (2014) 1.16
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Inherit Metab Dis (2012) 1.14
β-cell-specific gene repression: a mechanism to protect against inappropriate or maladjusted insulin secretion? Diabetes (2012) 1.13
A low-oxygenated subpopulation of pancreatic islets constitutes a functional reserve of endocrine cells. Diabetes (2011) 1.10
The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab (2013) 1.05
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab (2009) 1.04
Overexpression of monocarboxylate transporter-1 (SLC16A1) in mouse pancreatic β-cells leads to relative hyperinsulinism during exercise. Diabetes (2012) 0.95
MicroRNAs as pharmacological targets in diabetes. Pharmacol Res (2013) 0.88
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Horm Res Paediatr (2013) 0.87
The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia. J Clin Res Pediatr Endocrinol (2015) 0.83
Insulin secretion and insulin-producing tumors. Expert Rev Endocrinol Metab (2010) 0.81
What's new in metabolic and genetic hypoglycaemias: diagnosis and management. Eur J Pediatr (2007) 0.78
Development of the endocrine pancreas and novel strategies for β-cell mass restoration and diabetes therapy. Braz J Med Biol Res (2015) 0.78
Epigenetic programming of glucose-regulated insulin release. J Clin Invest (2015) 0.75
Insulinoma After Bariatric Surgery: Diagnostic Dilemma and Therapeutic Approaches. Obes Surg (2016) 0.75
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. Glob Pediatr Health (2017) 0.75
Beyond the Protein-Coding Sequence: Noncoding RNAs in the Pathogenesis of Type 2 Diabetes. Rev Diabet Stud (2016) 0.75
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. J Inherit Metab Dis (2017) 0.75
How stable is repression of disallowed genes in pancreatic islets in response to metabolic stress? PLoS One (2017) 0.75
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
A promoter-level mammalian expression atlas. Nature (2014) 6.25
Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis. Nat Biotechnol (2013) 5.89
Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility. PLoS One (2012) 5.03
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet (2005) 4.80
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet (2007) 4.76
A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 4.64
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 4.05
MMP12, lung function, and COPD in high-risk populations. N Engl J Med (2009) 3.96
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci (2002) 2.54
Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol (2009) 2.39
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet (2005) 2.32
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet (2006) 2.14
The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet (2005) 2.02
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A (2003) 1.93
Fanconi syndrome caused by antiepileptic therapy with valproic Acid. Epilepsia (2004) 1.87
Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int (2009) 1.85
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma. Am J Respir Crit Care Med (2005) 1.78
A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res (2009) 1.77
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain (2009) 1.71
Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis. J Invest Dermatol (2003) 1.68
N-acetylcysteine does not prevent bronchopulmonary dysplasia in immature infants: a randomized controlled trial. J Pediatr (2003) 1.67
Early clinical experiences with the new influenza A (H1N1/09). Dtsch Arztebl Int (2009) 1.65
Timing of infant feeding in relation to childhood asthma and allergic diseases. J Allergy Clin Immunol (2012) 1.62
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat (2002) 1.54
Transcriptome profiling of human pre-implantation development. PLoS One (2009) 1.51
Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem (2002) 1.50
Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B. Fertil Steril (2012) 1.50
Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem (2004) 1.50
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. Biol Psychiatry (2012) 1.50
Influence of the COMT genotype on working memory and brain activity changes during development. Biol Psychiatry (2011) 1.50
Characterization of endocrine progenitor cells and critical factors for their differentiation in human adult pancreatic cell culture. Diabetes (2003) 1.48
Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum. Gastroenterology (2002) 1.47
Pseudotumor cerebri as an important differential diagnosis of papilledema in children. Brain Dev (2005) 1.46
Large-scale zygosity testing using single nucleotide polymorphisms. Twin Res Hum Genet (2007) 1.45
Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis. Dev Med Child Neurol (2009) 1.42
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet (2002) 1.42
Baby-walkers: an avoidable source of hazard. Lancet (2008) 1.41
Management of diabetes mellitus in infants. Nat Rev Endocrinol (2011) 1.40
Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease. Environ Health Perspect (2008) 1.40
Crossed cerebellar diaschisis after status epilepticus in a young child. Neuropediatrics (2012) 1.40
The zebrafish transcriptome during early development. BMC Dev Biol (2011) 1.39
LifeGene--a large prospective population-based study of global relevance. Eur J Epidemiol (2010) 1.38
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
Hunter disease before and during enzyme replacement therapy. Pediatr Neurol (2011) 1.38
N-acetylcysteine reduces lipopolysaccharide-sensitized hypoxic-ischemic brain injury. Ann Neurol (2007) 1.33
Downregulation of EGF receptor signaling in pancreatic islets causes diabetes due to impaired postnatal beta-cell growth. Diabetes (2006) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet (2007) 1.32
A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry (2013) 1.31
Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains. Am J Physiol Cell Physiol (2002) 1.29
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem (2002) 1.27
Expression analysis of the NLRP gene family suggests a role in human preimplantation development. PLoS One (2008) 1.25
Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease. Gastroenterology (2007) 1.24
Distinct differentiation characteristics of individual human embryonic stem cell lines. BMC Dev Biol (2006) 1.24
Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis (2007) 1.23
Melatonin reduces inflammation and cell death in white matter in the mid-gestation fetal sheep following umbilical cord occlusion. Pediatr Res (2007) 1.23
Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons. PLoS One (2011) 1.22
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet (2009) 1.21
Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families. Am J Hum Genet (2002) 1.21
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care (2011) 1.19
ErbB signaling regulates lineage determination of developing pancreatic islet cells in embryonic organ culture. Endocrinology (2002) 1.19
Genome wide association study identifies KCNMA1 contributing to human obesity. BMC Med Genomics (2011) 1.18
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure. Biol Psychiatry (2012) 1.17
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus. J Med Genet (2007) 1.16
Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases. Hum Mol Genet (2008) 1.14
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Research resource: interactome of human embryo implantation: identification of gene expression pathways, regulation, and integrated regulatory networks. Mol Endocrinol (2011) 1.12
Drug repositioning: a machine-learning approach through data integration. J Cheminform (2013) 1.11
Life cell quantification of mitochondrial membrane potential at the single organelle level. Cytometry A (2008) 1.09
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations. Eur J Hum Genet (2012) 1.09
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes. J Allergy Clin Immunol (2005) 1.08
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. Reprod Biomed Online (2005) 1.07
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol (2013) 1.07
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis (2011) 1.06
The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia. FASEB J (2008) 1.06
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. BMC Med Genet (2009) 1.06
PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease. Inflamm Bowel Dis (2009) 1.06
Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatr Genet (2009) 1.06
The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects. Diabetes (2005) 1.06
Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum (2005) 1.05
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Am J Hum Genet (2006) 1.05
Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene. PLoS One (2012) 1.05
Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity. Free Radic Biol Med (2002) 1.05
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol (2008) 1.05