Published in Thyroid on June 01, 2010
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med (2006) 4.88
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Optimizing nucleic acid extraction from thyroid fine-needle aspiration cells in stained slides, formalin-fixed/paraffin-embedded tissues, and long-term stored blood samples. Arq Bras Endocrinol Metabol (2012) 2.57
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell (2010) 2.42
Evaluation of a model for efficient screening of tuberculosis contact subjects. Am J Respir Crit Care Med (2008) 2.32
Subclinical hyperthyroidism and the risk of coronary heart disease and mortality. Arch Intern Med (2012) 2.24
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med (2008) 2.06
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One (2010) 1.99
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr (2002) 1.90
The generation and utilization of a cancer-oriented representation of the human transcriptome by using expressed sequence tags. Proc Natl Acad Sci U S A (2003) 1.79
Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort. Blood (2010) 1.69
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. J Clin Endocrinol Metab (2002) 1.67
Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort. Horm Res Paediatr (2014) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Screening for macroprolactinaemia and pituitary imaging studies. Clin Endocrinol (Oxf) (2002) 1.53
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab (2004) 1.53
Impaired metabolic effects of a thyroid hormone receptor beta-selective agonist in a mouse model of diet-induced obesity. Thyroid (2010) 1.52
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol (2008) 1.50
Expanding indications for recombinant human TSH in thyroid cancer. Thyroid (2008) 1.49
A preoperative diagnostic test that distinguishes benign from malignant thyroid carcinoma based on gene expression. J Clin Invest (2004) 1.48
Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood. J Clin Endocrinol Metab (2013) 1.47
Subclinical thyroid dysfunctions are independent risk factors for mortality in a 7.5-year follow-up: the Japanese-Brazilian thyroid study. Eur J Endocrinol (2009) 1.47
Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment. J Clin Endocrinol Metab (2004) 1.46
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes (2004) 1.43
[Tolerance of the oral clonidine test in 180 patients: efficacy of the volemic expantion in controlling arterial hypotension]. Arq Bras Endocrinol Metabol (2005) 1.42
Evidence for precipitation on Mars from dendritic valleys in the Valles Marineris area. Science (2004) 1.41
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab (2005) 1.40
[Unexpected high values of TSH: the presence of high molecular weight forms (macro TSH) must be investigated]. Arq Bras Endocrinol Metabol (2006) 1.40
Control mechanisms of lung alveolar development and their disorders in bronchopulmonary dysplasia. Pediatr Res (2005) 1.40
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. Horm Res Paediatr (2015) 1.39
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33
Paracrine signaling by glial cell-derived triiodothyronine activates neuronal gene expression in the rodent brain and human cells. J Clin Invest (2010) 1.29
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab (2014) 1.26
Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment. J Clin Endocrinol Metab (2008) 1.23
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet (2009) 1.23
Endocrine involvement in pediatric-onset Langerhans' cell histiocytosis: a population-based study. J Pediatr (2004) 1.23
Insulin cell mass is altered in Csf1op/Csf1op macrophage-deficient mice. J Leukoc Biol (2004) 1.22
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Diabetes (2007) 1.22
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet (2002) 1.19
Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers. JAMA (2011) 1.19
Central diabetes insipidus as the inaugural manifestation of Langerhans cell histiocytosis: natural history and medical evaluation of 26 children and adolescents. J Clin Endocrinol Metab (2011) 1.18
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care (2013) 1.18
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). Mol Cell Endocrinol (2006) 1.15
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes (2009) 1.14
Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia. Am J Respir Crit Care Med (2011) 1.14
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res (2006) 1.13
European cystic fibrosis bone mineralisation guidelines. J Cyst Fibros (2011) 1.12
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab (2002) 1.12
Asthma is associated with acute chest syndrome, but not with an increased rate of hospitalization for pain among children in France with sickle cell anemia: a retrospective cohort study. Haematologica (2008) 1.11
Insulin resistance and the metabolic syndrome in obese French children. Clin Endocrinol (Oxf) (2006) 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
Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. Pediatrics (2007) 1.08
Diagnosis of suspicious thyroid nodules using four protein biomarkers. Clin Cancer Res (2006) 1.07
[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]. Arq Bras Endocrinol Metabol (2004) 1.07
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. J Biol Chem (2011) 1.06
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04
Gene expression profiling in lung fibroblasts reveals new players in alveolarization. Physiol Genomics (2007) 1.02
Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development. PLoS One (2008) 1.01
Characterization of insulin secretion and resistance in type 2 diabetes of adolescents. J Clin Endocrinol Metab (2005) 1.01
Thyroid nodules and differentiated thyroid cancer: update on the Brazilian consensus. Arq Bras Endocrinol Metabol (2013) 1.00
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res (2005) 1.00
Increase in alveolar nitric oxide in the presence of symptoms in childhood asthma. Chest (2004) 0.99
Prevalence of herpesviruses at onset of idiopathic nephrotic syndrome. Pediatr Nephrol (2014) 0.99
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. Eur J Endocrinol (2010) 0.98
Neonatal hyperglycaemia and abnormal development of the pancreas. Best Pract Res Clin Endocrinol Metab (2008) 0.98
A national internet-linked based database for pediatric interstitial lung diseases: the French network. Orphanet J Rare Dis (2012) 0.98
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Hum Genet (2007) 0.98
Molecular mechanisms of thyroid dysgenesis. Horm Res (2004) 0.97
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab (2006) 0.97
Hospitalizations for asthma in children are linked to undertreatment and insufficient asthma education. J Asthma (2011) 0.97
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol (2010) 0.97
Bronchopulmonary dysplasia and emphysema: in search of common therapeutic targets. Trends Mol Med (2009) 0.96
Endocrine pancreas development in growth-retarded human fetuses. Diabetes (2002) 0.96
Practical determination of hyaluronan by a new noncompetitive fluorescence-based assay on serum of normal and cirrhotic patients. Anal Biochem (2003) 0.95
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. Horm Res Paediatr (2014) 0.95
Gelatinase activities in the airways of premature infants and development of bronchopulmonary dysplasia. Am J Physiol Lung Cell Mol Physiol (2002) 0.95
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. Eur J Endocrinol (2008) 0.95
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. Horm Res Paediatr (2012) 0.95
Pulmonary effects of keratinocyte growth factor in newborn rats exposed to hyperoxia. Am J Physiol Lung Cell Mol Physiol (2009) 0.94
Epidemiology of thyroid dysgenesis: the familial component. Horm Res Paediatr (2010) 0.93
Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians. Arq Bras Endocrinol Metabol (2008) 0.93
Effects of vascular endothelial growth factor on isolated fetal alveolar type II cells. Am J Physiol Lung Cell Mol Physiol (2004) 0.92
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion. J Clin Endocrinol Metab (2006) 0.92