A search for variables predicting cortisol response to low-dose corticotropin stimulation following supraphysiological doses of glucocorticoids.

Adrenal suppression in children treated with swallowed fluticasone and oral viscous budesonide for eosinophilic esophagitis. Allergy Asthma Clin Immunol (2016) 0.75

Peak cortisol response to corticotropin-releasing hormone is associated with age and body size in children referred for clinical testing: a retrospective review. Int J Pediatr Endocrinol (2015) 0.75

Preemptive use of high-dose fluticasone for virus-induced wheezing in young children. N Engl J Med (2009) 2.65

Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome. J Pediatr (2008) 2.17

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat (2014) 2.17

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet (2005) 2.17

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab (2002) 2.00

Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab (2011) 1.96

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev (2003) 1.93

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

Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. J Pediatr (2004) 1.67

How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res (2007) 1.57

Very low birth weight newborns do not need repeat screening for congenital hypothyroidism. J Pediatr (2002) 1.54

Effectiveness of pamidronate as treatment of symptomatic osteonecrosis occurring in children treated for acute lymphoblastic leukemia. Pediatr Blood Cancer (2012) 1.51

Is ultrasonography useful in predicting thyroid cancer in children with thyroid nodules and apparently benign cytopathologic features? Horm Res Paediatr (2011) 1.48

Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? Arch Dis Child (2011) 1.38

Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet (2013) 1.26

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A (2011) 1.26

Advanced vertebral fracture among newly diagnosed children with acute lymphoblastic leukemia: results of the Canadian Steroid-Associated Osteoporosis in the Pediatric Population (STOPP) research program. J Bone Miner Res (2009) 1.24

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2009) 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

Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism. J Clin Endocrinol Metab (2005) 1.12

Type 1 diabetes in children and adolescents. Can J Diabetes (2013) 1.11

Fat depot-specific impact of visceral obesity on adipocyte adiponectin release in women. Obesity (Silver Spring) (2008) 1.11

Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab (2005) 1.10

Incident vertebral fractures among children with rheumatic disorders 12 months after glucocorticoid initiation: a national observational study. Arthritis Care Res (Hoboken) (2012) 1.09

Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr (2004) 1.07

Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec. J Clin Endocrinol Metab (2007) 1.07

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. Eur J Pediatr (2011) 1.06

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur J Endocrinol (2006) 1.05

Ectopic thyroid gland causing dysphonia: imaging and molecular studies. J Clin Endocrinol Metab (2010) 1.04

Meeting report: measuring endocrine-sensitive endpoints within the first years of life. Environ Health Perspect (2008) 1.02

Reference intervals for free thyroxine, total triiodothyronine, thyrotropin and thyroglobulin for Quebec newborns, children and teenagers. Clin Biochem (2004) 1.01

Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab (2008) 1.01

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A (2009) 0.98

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Hum Genet (2007) 0.98

Elevated serum 25(OH)D concentrations, vitamin D, and calcium intakes are associated with reduced adipocyte size in women. Obesity (Silver Spring) (2011) 0.98

Possible non-Mendelian mechanisms of thyroid dysgenesis. Endocr Dev (2007) 0.98

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. J Clin Endocrinol Metab (2007) 0.97

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet (2013) 0.97

Do estrogens impact adolescent idiopathic scoliosis? Trends Endocrinol Metab (2009) 0.96

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hum Mutat (2010) 0.94

Continuous glucose monitoring: a review of biochemical perspectives and clinical use in type 1 diabetes. Clin Biochem (2008) 0.93

Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma. J Clin Endocrinol Metab (2014) 0.91

Circulating IL-6 concentrations and abdominal adipocyte isoproterenol-stimulated lipolysis in women. Obesity (Silver Spring) (2008) 0.91

Genomic imprinting in Turner syndrome: effects on response to growth hormone and on risk of sensorineural hearing loss. J Clin Endocrinol Metab (2006) 0.91

Muscle-bone characteristics in children with Prader-Willi syndrome. J Clin Endocrinol Metab (2011) 0.89

Transcriptome, methylome and genomic variations analysis of ectopic thyroid glands. PLoS One (2010) 0.88

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol (2014) 0.86

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Hum Mutat (2005) 0.86

Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. Thyroid (2010) 0.86

A high prevalence of dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during embryonic thyroid migration or for the polyclonal nature of the thyroid gland? J Clin Endocrinol Metab (2012) 0.84

Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis. Endocrinology (2006) 0.84

Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link? J Clin Endocrinol Metab (2011) 0.84

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A (2012) 0.84

Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrinol Metab (2013) 0.84

Therapeutic approach of fetal thyroid disorders. Horm Res Paediatr (2010) 0.84

Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). J Clin Endocrinol Metab (2005) 0.83

Evidence for calcitonin-producing cells in human lingual thyroids. J Clin Endocrinol Metab (2012) 0.83

Oxidative stress and cystic fibrosis-related diabetes: a pilot study in children. J Cyst Fibros (2008) 0.83

Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment. J Pediatr (2010) 0.83

Association between lean and fat mass and indicators of bone health in prepubertal caucasian children. Horm Res Paediatr (2013) 0.82

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J Clin Endocrinol Metab (2007) 0.82

The choice of normative pediatric reference database changes spine bone mineral density Z-scores but not the relationship between bone mineral density and prevalent vertebral fractures. J Clin Endocrinol Metab (2014) 0.82

Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glands. J Clin Endocrinol Metab (2014) 0.81

Outcome after bariatric surgery in two adolescents with hypothalamic obesity following treatment of craniopharyngioma. J Pediatr Endocrinol Metab (2009) 0.80

Thyroid function from birth to adolescence in Prader-Willi syndrome. J Pediatr (2013) 0.79

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs. Horm Res (2009) 0.79

Normal minipuberty of infancy in boys with Prader-Willi syndrome. J Pediatr (2006) 0.79

Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis. Horm Res Paediatr (2014) 0.79

Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones. Horm Res (2002) 0.78

Glucocorticoid-related changes in body mass index among children and adolescents with rheumatic diseases. Arthritis Care Res (Hoboken) (2013) 0.78

Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone. BMC Pediatr (2011) 0.78

Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls. J Pediatr (2012) 0.78

Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome. Acta Paediatr (2011) 0.77

The International Research Society of Spinal Deformities (IRSSD) and its contribution to science. Scoliosis (2009) 0.77

Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis. Endocrinology (2015) 0.77

The continuing health burden of congenital hypothyroidism in the era of neonatal screening. J Clin Endocrinol Metab (2011) 0.77

Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. Clin Biochem (2004) 0.77

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed? J Pediatr (2010) 0.77