Published in Thyroid on July 11, 2011
Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome. J Pediatr (2008) 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
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
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
Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab (2005) 1.10
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec. J Clin Endocrinol Metab (2007) 1.07
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
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
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
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
Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link? J Clin Endocrinol Metab (2011) 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
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
Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment. J Pediatr (2010) 0.83
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J Clin Endocrinol Metab (2007) 0.82
A search for variables predicting cortisol response to low-dose corticotropin stimulation following supraphysiological doses of glucocorticoids. J Pediatr (2013) 0.81
Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glands. J Clin Endocrinol Metab (2014) 0.81
Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy. Pediatr Diabetes (2014) 0.80
Outcome after bariatric surgery in two adolescents with hypothalamic obesity following treatment of craniopharyngioma. J Pediatr Endocrinol Metab (2009) 0.80
Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs. Horm Res (2009) 0.79
Thyroid function from birth to adolescence in Prader-Willi syndrome. J Pediatr (2013) 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
Normal minipuberty of infancy in boys with Prader-Willi syndrome. J Pediatr (2006) 0.79
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
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
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
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
Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome. Acta Paediatr (2011) 0.77
The continuing health burden of congenital hypothyroidism in the era of neonatal screening. J Clin Endocrinol Metab (2011) 0.77
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism. Endocr Rev (2009) 0.76
Congenital hypothyroidism: from paracelsus to molecular diagnosis. Clin Biochem (2006) 0.76
Impact of del32-71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis. Horm Res (2006) 0.76
Undetectable AMH at 3 days of age: a clue to bilateral anorchia. Clin Biochem (2010) 0.76
Diagnosis, treatment and outcome of congenital hypothyroidism. Endocr Dev (2014) 0.76
Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. Horm Res (2004) 0.76
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. J Pediatr Endocrinol Metab (2002) 0.76
Treating congenital hypothyroidism--which levothyroxine? Nat Rev Endocrinol (2013) 0.75
Rising serum thyroxine levels and chorea in graves' disease. Pediatrics (2013) 0.75
Impact of patient characteristics and clinical factors on the decision to initiate growth hormone treatment in Turner syndrome. Horm Res (2008) 0.75
Decreasing sex difference in birth weight. Epidemiology (2009) 0.75
Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations. Horm Res Paediatr (2015) 0.75
Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage. Horm Res Paediatr (2016) 0.75
Natural history of growth hormone deficiency in a pediatric cohort. Horm Res Paediatr (2015) 0.75
A novel presentation of diffuse lung disease caused by congenital hypothyroidism. J Pediatr (2009) 0.75
Autonomous adenomas caused by somatic mutations of the thyroid-stimulating hormone receptor in children. Horm Res Paediatr (2014) 0.75