Published in Eur J Endocrinol on May 12, 2011
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Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. J Med Genet (2015) 0.76
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Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet (2010) 3.21
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet (2004) 2.98
Age-specific stabilization in obesity prevalence in German children: a cross-sectional study from 1999 to 2008. Int J Pediatr Obes (2010) 2.47
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Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Differences in taste sensitivity between obese and non-obese children and adolescents. Arch Dis Child (2012) 1.65
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab (2013) 1.61
Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs. Arch Dis Child (2010) 1.53
Growth hormone regimens in Australia: analysis of the first 3 years of treatment for idiopathic growth hormone deficiency and idiopathic short stature. Clin Endocrinol (Oxf) (2012) 1.50
Metformin and placebo therapy both improve weight management and fasting insulin in obese insulin-resistant adolescents: a prospective, placebo-controlled, randomized study. Eur J Endocrinol (2010) 1.48
A role for beta-melanocyte-stimulating hormone in human body-weight regulation. Cell Metab (2006) 1.46
Gender identity disorders in childhood and adolescence: currently debated concepts and treatment strategies. Dtsch Arztebl Int (2008) 1.43
Changes in pediatric diabetes care throughout a 30-yr period at one institution for pediatric diabetology in Germany. Pediatr Diabetes (2002) 1.39
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A (2010) 1.36
Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity -- a problem that is no longer restricted to minority groups. Eur J Endocrinol (2004) 1.28
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab (2014) 1.26
Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review. Intensive Care Med (2006) 1.26
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol (2007) 1.26
Congenital hyperinsulinism. Early Hum Dev (2010) 1.21
Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? PLoS Genet (2009) 1.18
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab (2006) 1.12
An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity. PLoS Genet (2012) 1.07
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Hum Mol Genet (2008) 1.03
Use of complementary and alternative medicine in children with type 1 diabetes mellitus - prevalence, patterns of use, and costs. Pediatr Diabetes (2008) 1.01
Mutually opposite signal modulation by hypothalamic heterodimerization of ghrelin and melanocortin-3 receptors. J Biol Chem (2011) 1.01
Ongoing expression of Nkx2.1 in the postnatal mouse forebrain: potential for understanding NKX2.1 haploinsufficiency in humans? Brain Res (2009) 0.99
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. Arch Dis Child Fetal Neonatal Ed (2010) 0.99
Arteries define the position of the thyroid gland during its developmental relocalisation. Development (2006) 0.98
The predictive value of preoperative fluorine-18-L-3,4-dihydroxyphenylalanine positron emission tomography-computed tomography scans in children with congenital hyperinsulinism of infancy. J Pediatr Surg (2011) 0.98
Novel insights on thyroid-stimulating hormone receptor signal transduction. Endocr Rev (2013) 0.97
The role of growth hormone, insulin-like growth factor and somatostatin in diabetic retinopathy. Curr Med Chem (2006) 0.96
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. Horm Res Paediatr (2014) 0.95
Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child (2007) 0.95
Neonatal diabetes mellitus: Insulin pump as an alternative management strategy. J Paediatr Child Health (2005) 0.95
Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol (2011) 0.95
Molecular mechanisms of neonatal hyperinsulinism. Horm Res (2006) 0.94
Molecular genetic defects in congenital hypothyroidism. Eur J Endocrinol (2004) 0.93
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol (2002) 0.93
Glucose-dependent insulinotropic polypeptide reduces fat-specific expression and activity of 11β-hydroxysteroid dehydrogenase type 1 and inhibits release of free fatty acids. Diabetes (2011) 0.93
Oestrogen treatment to reduce the adult height of tall girls: long-term effects on fertility. Lancet (2004) 0.92
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clin Endocrinol (Oxf) (2009) 0.92
Harmonization of growth hormone measurements with different immunoassays by data adjustment. Clin Chem Lab Med (2011) 0.92
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. Eur J Pediatr (2011) 0.92
The orphan receptor Gpr83 regulates systemic energy metabolism via ghrelin-dependent and ghrelin-independent mechanisms. Nat Commun (2013) 0.90
The neuroendocrine circuitry controlled by POMC, MSH, and AGRP. Handb Exp Pharmacol (2012) 0.90
Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity. J Biol Chem (2003) 0.88
Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. J Clin Endocrinol Metab (2007) 0.88
Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through. Obesity (Silver Spring) (2011) 0.88
Heterodimerization of hypothalamic G-protein-coupled receptors involved in weight regulation. Obes Facts (2009) 0.88
Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants. BMC Med Genomics (2012) 0.87
Differential modulation of Beta-adrenergic receptor signaling by trace amine-associated receptor 1 agonists. PLoS One (2011) 0.87
Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies. Int J Pediatr Endocrinol (2012) 0.86
Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information. Thyroid Res (2011) 0.86
High-normal C-reactive protein levels do not affect the vitamin A transport complex in serum of children and adolescents with type 1 diabetes. Pediatr Res (2007) 0.86
The use of bone age in clinical practice - part 2. Horm Res Paediatr (2011) 0.86
Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response. Clin Endocrinol (Oxf) (2011) 0.86
Looking back in time: conducting a cohort study of the long-term effects of treatment of adolescent tall girls with synthetic hormones. BMC Public Health (2011) 0.86
New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR. J Clin Endocrinol Metab (2011) 0.85
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab (2009) 0.85
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation. Thyroid Res (2011) 0.85
Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease. Horm Res Paediatr (2013) 0.85
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Eur J Endocrinol (2012) 0.85
MC4R oligomerizes independently of extracellular cysteine residues. Peptides (2005) 0.85
A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6. J Clin Endocrinol Metab (2010) 0.85
MC4R dimerization in the paraventricular nucleus and GHSR/MC3R heterodimerization in the arcuate nucleus: is there relevance for body weight regulation? Neuroendocrinology (2012) 0.84
Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract Res Clin Endocrinol Metab (2002) 0.84
Update on the management of congenital hypothyroidism. Horm Res (2007) 0.84
Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy. Eur J Endocrinol (2011) 0.84
Gender influences short-term growth hormone treatment response in children. Horm Res Paediatr (2012) 0.83
Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis. J Rheumatol (2004) 0.83
EDTA in dried blood spots leads to false results in neonatal endocrinologic screening. Clin Chem (2008) 0.83
The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab (2011) 0.83
Mutation analysis of the MCHR1 gene in human obesity. Eur J Endocrinol (2005) 0.83
Neonatal thyroid disorders. Horm Res (2003) 0.83
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis? Mol Cell Endocrinol (2011) 0.82
Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab (2010) 0.82
Inhibition of melanocortin-4 receptor dimerization by substitutions in intracellular loop 2. J Mol Endocrinol (2013) 0.82
G-protein coupled receptor 83 (GPR83) signaling determined by constitutive and zinc(II)-induced activity. PLoS One (2013) 0.81
Oestrogen treatment for tall stature in girls: estimating the effect on height and the error in height prediction. Clin Endocrinol (Oxf) (2007) 0.81
Type 2 diabetes mellitus in children and adolescents--the beginning of a renal catastrophe? Nephrol Dial Transplant (2004) 0.80
Proinsulin and the proinsulin/insulin ratio in overweight and obese children and adolescents: relation to clinical parameters, insulin resistance, and impaired glucose regulation. Pediatr Diabetes (2011) 0.79
Insulin detemir offers improved glycemic control compared with NPH insulin in people with type 1 diabetes. Diabetes Care (2004) 0.79
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Hum Mutat (2005) 0.79
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus. Nephrol Dial Transplant (2011) 0.79
Comparison of Centers for Disease Control and Prevention and World Health Organization references/standards for height in contemporary Australian children: analyses of the Raine Study and Australian National Children's Nutrition and Physical Activity cohorts. J Paediatr Child Health (2014) 0.79
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. Eur J Pediatr (2003) 0.79
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development. Eur J Endocrinol (2014) 0.78
Visualization of the focus in congenital hyperinsulinism by intraoperative sonography. Semin Pediatr Surg (2011) 0.78
Using hormone treatment to reduce the adult height of tall girls: are women satisfied with the decision in later years? Soc Sci Med (2005) 0.78
Comparison of weight- vs body surface area-based growth hormone dosing for children: implications for response. Clin Endocrinol (Oxf) (2013) 0.78
Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from Berlin. Eur J Endocrinol (2010) 0.78
Glucose tolerance during pulmonary exacerbations in children with cystic fibrosis. PLoS One (2012) 0.77