Published in Diabetes on March 01, 2003
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care (2011) 1.04
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab (2009) 1.04
Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells. Diabetes (2012) 1.01
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions. J Clin Invest (2011) 0.99
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. Int J Clin Exp Pathol (2010) 0.97
Pharmacological stimulation and inhibition of insulin secretion in mouse islets lacking ATP-sensitive K+ channels. Br J Pharmacol (2010) 0.90
Limited therapeutic efficacy of pioglitazone on progression of hepatic fibrosis in rats. Gut (2006) 0.89
Hyperinsulinemic hypoglycemia due to adult nesidioblastosis in insulin-dependent diabetes. World J Gastroenterol (2006) 0.88
Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet (2005) 0.87
The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children. Eur J Nucl Med Mol Imaging (2007) 0.84
Heterozygous inactivation of the Na/Ca exchanger increases glucose-induced insulin release, β-cell proliferation, and mass. Diabetes (2011) 0.82
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. Am J Clin Pathol (2016) 0.81
Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect. J Clin Endocrinol Metab (2016) 0.77
Characterization of β-cell plasticity mechanisms induced in mice by a transient source of exogenous insulin. Am J Physiol Endocrinol Metab (2013) 0.75
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. Int J Clin Exp Pathol (2015) 0.75
Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging. Int J Pediatr Endocrinol (2015) 0.75
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
Association between Staphylococcus aureus strains carrying gene for Panton-Valentine leukocidin and highly lethal necrotising pneumonia in young immunocompetent patients. Lancet (2002) 10.26
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Cross-talk between Akkermansia muciniphila and intestinal epithelium controls diet-induced obesity. Proc Natl Acad Sci U S A (2013) 5.88
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Magnetic resonance elastography for the noninvasive staging of liver fibrosis. Gastroenterology (2008) 3.67
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 2.38
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol (2003) 2.12
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2009) 2.07
Urinary clusterin, cystatin C, beta2-microglobulin and total protein as markers to detect drug-induced kidney injury. Nat Biotechnol (2010) 2.00
CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J (2003) 1.96
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol (2008) 1.91
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol (2007) 1.84
A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis. Hepatology (2011) 1.84
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78
Sexual dimorphism in environmental epigenetic programming. Mol Cell Endocrinol (2009) 1.74
Bronchoalveolar cells in children < 3 years old with severe recurrent wheezing. Chest (2002) 1.73
BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. J Clin Endocrinol Metab (2002) 1.72
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). Oncogene (2003) 1.67
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet (2013) 1.63
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics. Biol Sex Differ (2013) 1.60
PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol (2002) 1.59
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome. Obesity (Silver Spring) (2007) 1.58
Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol (2011) 1.57
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet (2006) 1.55
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat (2005) 1.54
Attenuated virulence of Streptococcus agalactiae deficient in D-alanyl-lipoteichoic acid is due to an increased susceptibility to defensins and phagocytic cells. Mol Microbiol (2003) 1.53
Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr (2010) 1.52
Cerebral microcirculation shear stress levels determine Neisseria meningitidis attachment sites along the blood-brain barrier. J Exp Med (2006) 1.51
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol (2008) 1.50
Adolescents with partial growth hormone (GH) deficiency develop alterations of body composition after GH discontinuation and require follow-up. J Clin Endocrinol Metab (2003) 1.50
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet (2008) 1.48
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Nutritional epigenomics of metabolic syndrome: new perspective against the epidemic. Diabetes (2005) 1.48
Pediatric ulcerative colitis associated with autoimmune diseases: a distinct form of inflammatory bowel disease? Inflamm Bowel Dis (2012) 1.46
Use of bovine jugular vein to reconstruct the right ventricular outflow tract: early results. J Thorac Cardiovasc Surg (2003) 1.46
CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genet (2007) 1.46
The GluCre-ROSA26EYFP mouse: a new model for easy identification of living pancreatic alpha-cells. FEBS Lett (2007) 1.45
Liver transplantation for nonsteroidal anti-inflammatory drug-induced liver failure: nimesulide as the first implicated compound. Eur J Gastroenterol Hepatol (2007) 1.42
Sex- and diet-specific changes of imprinted gene expression and DNA methylation in mouse placenta under a high-fat diet. PLoS One (2010) 1.41
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
DOR-1, A novel CD10+ stromal cell line derived from progressive Langerhans cell histiocytosis of bone. Pediatr Blood Cancer (2005) 1.41
[Biological and pathological data in a case of yellow fever imported from the Gambia]. Ann Pathol (2005) 1.39
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes (2006) 1.37
Inflammatory myofibroblastic tumor in children: clinical review with anaplastic lymphoma kinase, Epstein-Barr virus, and human herpesvirus 8 detection analysis. J Pediatr Surg (2005) 1.37
Six-month survival of microencapsulated pig islets and alginate biocompatibility in primates: proof of concept. Transplantation (2006) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes (2004) 1.34
Maternal diets trigger sex-specific divergent trajectories of gene expression and epigenetic systems in mouse placenta. PLoS One (2012) 1.32
MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol (2004) 1.30
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res (2011) 1.28
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med (2005) 1.26
Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr (2003) 1.25
Tamm-Horsfall protein or uromodulin: new ideas about an old molecule. Nephrol Dial Transplant (2005) 1.25
Dietary non-digestible carbohydrates promote L-cell differentiation in the proximal colon of rats. Br J Nutr (2007) 1.25
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab (2005) 1.25
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
The case for strategic international alliances to harness nutritional genomics for public and personal health. Br J Nutr (2005) 1.24
Obstetric US: watch the fetal hands. Radiographics (2006) 1.24
Solid and pseudopapillary tumor of the pancreas--review and new insights into pathogenesis. Am J Surg Pathol (2006) 1.23
Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr (2002) 1.22
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics (2002) 1.21
Congenital hyperinsulinism. Early Hum Dev (2010) 1.21
Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry. J Pediatr (2006) 1.20
Listeria monocytogenes-infected bone marrow myeloid cells promote bacterial invasion of the central nervous system. Cell Microbiol (2005) 1.19
Developmental programming and epigenetics. Am J Clin Nutr (2011) 1.18
Molecular genetics of sex determination. Semin Reprod Med (2002) 1.18
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol (2009) 1.15
New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). J Pediatr Surg (2006) 1.14
Assessment of diffusion-weighted MR imaging in liver fibrosis. J Magn Reson Imaging (2007) 1.14
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Streptozotocin-induced diabetes in large animals (pigs/primates): role of GLUT2 transporter and beta-cell plasticity. Transplantation (2006) 1.14
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. Hum Mutat (2004) 1.13
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One (2008) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Constitutively active Akt1 expression in mouse pancreas requires S6 kinase 1 for insulinoma formation. J Clin Invest (2008) 1.11
Glucose and pharmacological modulators of ATP-sensitive K+ channels control [Ca2+]c by different mechanisms in isolated mouse alpha-cells. Diabetes (2008) 1.11
Peripheral neuropathy and inborn errors of metabolism in adults. J Inherit Metab Dis (2007) 1.11
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". Hum Mutat (2010) 1.11
Expansion of regulatory T cells in patients with Langerhans cell histiocytosis. PLoS Med (2007) 1.10
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr (2002) 1.10