Published in Eur J Pediatr on October 01, 2004
Physiology and pathophysiology of the calcium-sensing receptor in the kidney. Am J Physiol Renal Physiol (2009) 2.02
Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators. J Cell Mol Med (2007) 1.11
Hypercalcemia in children and adolescents. Curr Opin Pediatr (2010) 1.09
Primary hyperparathyroidism in children and adolescents. J Chin Med Assoc (2012) 1.04
Hereditary hyperparathyroidism-a consensus report of the European Society of Endocrine Surgeons (ESES). Langenbecks Arch Surg (2015) 1.03
Molecular genetics of parathyroid disease. World J Surg (2009) 1.01
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. J Clin Endocrinol Metab (2013) 0.94
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr (2008) 0.89
Calcium-sensing receptor 20 years later. Am J Physiol Cell Physiol (2014) 0.87
Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function. J Clin Endocrinol Metab (2010) 0.83
The abnormal phenotypes of cartilage and bone in calcium-sensing receptor deficient mice are dependent on the actions of calcium, phosphorus, and PTH. PLoS Genet (2011) 0.80
Neonatal severe hyperparathyroidism: further clinical and molecular delineation. Eur J Pediatr (2010) 0.78
Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol (2016) 0.75
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. Endocrinol Diabetes Metab Case Rep (2015) 0.75
Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med (1998) 3.66
Bisphosphonates: from the laboratory to the clinic and back again. Bone (1999) 2.55
Do bisphosphonates make children's bones better or brittle? N Engl J Med (2003) 2.17
The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone. J Clin Invest (2003) 1.53
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest (1995) 1.49
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med (1982) 1.33
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest (1996) 1.27
Expanding role of bisphosphonate therapy in children. J Pediatr (1999) 1.18
Long-term effects of bisphosphonates on the growing skeleton. Studies of young patients with severe osteoporosis. Medicine (Baltimore) (1997) 1.17
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat (2000) 1.14
Regulation of murine fetal-placental calcium metabolism by the calcium-sensing receptor. J Clin Invest (1998) 1.13
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest (1994) 1.13
Physiology and pathophysiology of the extracellular calcium-sensing receptor. Am J Med (1999) 1.05
Bone turnover in children and adolescents with McCune-Albright syndrome treated with pamidronate for bone fibrous dysplasia. Calcif Tissue Int (2002) 0.98
Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism. Clin Endocrinol (Oxf) (1999) 0.92
The role of bisphosphonates in diseases of childhood. Eur J Pediatr (2003) 0.89
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab (1995) 0.89
Normal urinary calcium/creatinine ratios in African-American and Caucasian children. Pediatr Nephrol (2001) 0.86
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. Clin Endocrinol (Oxf) (1999) 0.84
Severe immobilization-induced hypercalcemia in a child after liver transplantation successfully treated with pamidronate. Transplantation (1994) 0.83
Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet (1997) 0.83
Use of bisphosphonates in children and adolescents. J Pediatr Endocrinol Metab (2002) 0.79
Use of bisphosphonates in hypercalcemia associated with childhood cancer. J Clin Oncol (1999) 0.75
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med (2003) 6.87
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest (2007) 3.20
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold. Arch Dis Child (2009) 2.98
Consensus statement of the European Group on Graves' orbitopathy (EUGOGO) on management of GO. Eur J Endocrinol (2008) 2.70
Consensus statement of the European group on Graves' orbitopathy (EUGOGO) on management of Graves' orbitopathy. Thyroid (2008) 2.65
Decline in surgical training. Lancet (2002) 2.30
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab (2008) 1.92
Improving the vitamin D status of vitamin D deficient adults is associated with improved mitochondrial oxidative function in skeletal muscle. J Clin Endocrinol Metab (2013) 1.73
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet A (2004) 1.72
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant (2012) 1.71
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance. Cell Metab (2006) 1.59
Comparison of mesenchymal stem cells from bone marrow and adipose tissue for bone regeneration in a critical size defect of the sheep tibia and the influence of platelet-rich plasma. Biomaterials (2010) 1.58
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berl) (2005) 1.56
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet (2012) 1.53
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet (2012) 1.51
Imaging of conjoined twins. Pediatr Radiol (2006) 1.48
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int (2003) 1.39
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
Information on the World Wide Web--how useful is it for parents? J Pediatr Surg (2007) 1.25
Transcriptional dynamics of two seed compartments with opposing roles in Arabidopsis seed germination. Plant Physiol (2013) 1.23
Refining animal models in fracture research: seeking consensus in optimising both animal welfare and scientific validity for appropriate biomedical use. BMC Musculoskelet Disord (2007) 1.20
The emerging role of the CTLA-4 gene in autoimmune endocrinopathies. Eur J Endocrinol (2004) 1.19
Gastroenteric fistula complicating percutaneous endoscopic gastrostomy. J Pediatr Surg (2004) 1.18
Oesophageal atresia: improved outcome in high-risk groups? J Pediatr Surg (2006) 1.12
Is there a future for academic medicine in the UK? Hosp Med (2005) 1.10
Staged repair of giant omphalocele in the neonatal period. J Pediatr Surg (2005) 1.09
Use of multivariate analysis to suggest a new molecular classification of colorectal cancer. J Pathol (2013) 1.09
Quality of life after gastric transposition for oesophageal atresia. J Pediatr Surg (2003) 1.09
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat (2010) 1.08
The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease. Clin Endocrinol (Oxf) (2008) 1.07
Surgical outcomes of esophageal atresia without fistula for 24 years at a single institution. J Pediatr Surg (2009) 1.03
Human SH2B1 mutations are associated with maladaptive behaviors and obesity. J Clin Invest (2012) 1.01
Carbon dioxide elimination during laparoscopy in children is age dependent. J Pediatr Surg (2003) 1.01
Cytotoxic T-lymphocyte-associated antigen-4 single nucleotide polymorphisms and haplotypes in primary biliary cirrhosis. Clin Gastroenterol Hepatol (2007) 0.99
Gastrostomy feeding in infants and children on peritoneal dialysis. Pediatr Nephrol (2002) 0.98
Duhamel pull-through for Hirschsprung disease: a comparison of open and laparoscopic techniques. J Pediatr Surg (2012) 0.98
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab (2014) 0.97
Dorsoventral patterning in oesophageal atresia with tracheo-oesophageal fistula: Evidence from a new mouse model. J Pediatr Surg (2002) 0.94
Foregut separation and tracheo-oesophageal malformations: the role of tracheal outgrowth, dorso-ventral patterning and programmed cell death. Dev Biol (2009) 0.93
Role of Sonic hedgehog in the development of the trachea and oesophagus. J Pediatr Surg (2003) 0.92
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells. Pediatr Nephrol (2006) 0.92
Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience. Eur J Endocrinol (2006) 0.92
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. J Clin Endocrinol Metab (2010) 0.90
Bacterial counts from hospital doctors' ties are higher than those from shirts. Am J Infect Control (2009) 0.90
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab (2014) 0.90
Vitamin D status in paediatric patients with cancer. Pediatr Blood Cancer (2011) 0.89
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab (2009) 0.89
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet (2010) 0.88
Why parents of children with neurodevelopmental disabilities requiring gastrostomy feeding need more support. Dev Med Child Neurol (2003) 0.88
Neonatal nephrocalcinosis in association with glucose-galactose malabsorption. Pediatr Nephrol (2003) 0.87
EUNEFRON, the European Network for the Study of Orphan Nephropathies. Nephrol Dial Transplant (2009) 0.86
Many men are receiving unnecessary testosterone prescriptions. BMJ (2012) 0.85
Intraosseous gentamicin perfusion of the distal metacarpus in standing horses. Vet Surg (2004) 0.85
Hypothermia throughout intestinal ischaemia-reperfusion injury attenuates lung neutrophil infiltration. J Pediatr Surg (2003) 0.85
Is intralesional injection of OK-432 effective in the treatment of lymphangioma in children? Surgery (2003) 0.85
Moderate hypothermia protects against systemic oxidative stress in a rat model of intestinal ischemia and reperfusion injury. Shock (2005) 0.84
Permanent and transient congenital hypothyroidism in preterm infants. Acta Paediatr (2011) 0.84
CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma. J Clin Endocrinol Metab (2014) 0.84
Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. Arch Ophthalmol (2012) 0.83
A comparison of methods for EGFR mutation testing in non-small cell lung cancer. Diagn Mol Pathol (2013) 0.83
Body temperature and heat production in suckling rat endotoxaemia: beneficial effects of glutamine. J Pediatr Surg (2003) 0.83
Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level. Physiol Genomics (2013) 0.83
Intestinal energy metabolism after ischemia-reperfusion: Effects of moderate hypothermia and perfluorocarbons. J Pediatr Surg (2002) 0.82
Clinical academic medicine: the way forward. Clin Med (2005) 0.82
Factors predicting failure of redo Nissen fundoplication in children. Pediatr Surg Int (2007) 0.82
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). J Clin Endocrinol Metab (2014) 0.81
What is the best approach to the teenage patient presenting with nonclassical congenital adrenal hyperplasia: should we always treat with glucocorticoids? Clin Endocrinol (Oxf) (2013) 0.81
Double-plating of ovine critical sized defects of the tibia: a low morbidity model enabling continuous in vivo monitoring of bone healing. BMC Musculoskelet Disord (2011) 0.80
Neonatal endotoxemia affects heart but not kidney bioenergetics. J Pediatr Surg (2003) 0.80
Xenogenic transplantation of human mesenchymal stem cells in a critical size defect of the sheep tibia for bone regeneration. Tissue Eng Part A (2010) 0.80
Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome. Pediatr Nephrol (2004) 0.80
Confusing genes: a patient with MEN2A and Cushing's disease. Clin Endocrinol (Oxf) (2013) 0.80
TSH levels in relation to gestation, birth weight and sex. Horm Res (2009) 0.79
Tyrosine nitration of carnitine palmitoyl transferase I during endotoxaemia in suckling rats. Biochim Biophys Acta (2004) 0.79
Cardiac and renal mitochondria respond differently to hydrogen peroxide in suckling rats. J Surg Res (2003) 0.79
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. Am J Med Genet A (2005) 0.78
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria. Urol Res (2009) 0.78
High likelihood of malignancy in young patients presenting with a thyroid nodule in Northern England. Clin Endocrinol (Oxf) (2013) 0.78
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. Pediatr Nephrol (2003) 0.78
Management of pyopagus conjoined twins. Childs Nerv Syst (2004) 0.77
Cloacal exstrophy: morbidity associated with abnormalities of the gastrointestinal tract and spine. J Pediatr Surg (2004) 0.77
Congenital hypothyroidism: managing the hinterland between fact and theory. Arch Dis Child (2010) 0.77
Persistent ascites can be effectively treated by peritoneovenous shunts. J Pediatr Surg (2011) 0.77
Differential effects of neonatal endotoxemia on heart and kidney carnitine palmitoyl transferase I. J Pediatr Surg (2002) 0.76
Effectiveness of alimemazine in controlling retching after Nissen fundoplication. J Pediatr Surg (2005) 0.76
Hepatic glutamine metabolism during endotoxemia in neonatal rats. Nutrition (2002) 0.76
Capillary haemangioma of the greater omentum. Pediatr Radiol (2001) 0.75
Increasing use of radioiodine in young people with thyrotoxicosis in Great Britain. Eur J Endocrinol (2012) 0.75
Pitfalls in investigating for diabetes insipidus. Indian Pediatr (2008) 0.75
Vitamin D testing. Lancet (2012) 0.75
Graves' immune reconstitution inflammatory syndrome in childhood. Thyroid (2013) 0.75
Melatonin protects from, but does not reverse, the effects of mediators of sepsis on liver bioenergetics. Pediatr Surg Int (2004) 0.75
Vitamin D supplementation--still in its infancy. Indian Pediatr (2010) 0.75
Simplifying and refining the assessment of early puberty. Arch Dis Child (2013) 0.75
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age. Arch Dis Child (2007) 0.75
The conjoined twins. Transcript of the speeches given at the BAFS annual dinner on 28 February 2002. British Academy of Forensic Sciences. Med Sci Law (2002) 0.75
Which antithyroid drug regimen in paediatric Graves' disease? Clin Endocrinol (Oxf) (2012) 0.75