Published in Endocr Dev on January 01, 2005
Evaluation of the true precocious puberty rats induced by neonatal administration of Danazol: therapeutic effects of nourishing "Yin"-Removing "Fire" Chinese herb mixture. Reprod Biol Endocrinol (2005) 0.82
Gonadotropin-Releasing Hormone Analogue Treatment in Females with Moderately Early Puberty: No Effect on Final Height. J Clin Res Pediatr Endocrinol (2015) 0.79
Causes and types of precocious puberty in north-west iran. Iran J Pediatr (2012) 0.78
Evaluating the Efficacy of Treatment with a GnRH Analogue in Patients with Central Precocious Puberty. Int J Endocrinol (2015) 0.75
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev (2003) 1.93
Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule. J Pediatr (2003) 1.84
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29
Management and outcome of central precocious puberty. Clin Endocrinol (Oxf) (2002) 1.25
Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A (2004) 1.21
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab (2004) 1.16
Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res (2002) 1.15
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Rev Endocr Metab Disord (2007) 1.15
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab (2006) 1.02
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2004) 1.00
Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function. Mol Cell Endocrinol (2006) 0.98
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol (2005) 0.93
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Clin Chem (2002) 0.92
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. J Clin Endocrinol Metab (2009) 0.90
Sex hormone testosterone affects language organization in the infant brain. Neuroreport (2008) 0.89
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab (2003) 0.89
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol (2007) 0.88
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab (2005) 0.88
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 0.87
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab (2006) 0.86
Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. J Pediatr Endocrinol Metab (2006) 0.86
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control. Mol Cytogenet (2010) 0.86
Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res (2002) 0.86
Treatment of central precocious puberty. Best Pract Res Clin Endocrinol Metab (2002) 0.86
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. J Clin Endocrinol Metab (2004) 0.85
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system. Hum Mutat (2009) 0.85
[Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency]. J Dtsch Dermatol Ges (2006) 0.83
Central precocious puberty in girls with Williams syndrome. J Pediatr (2002) 0.82
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice. Endocrinology (2005) 0.81
Longitudinal study of plasma pregnenolone and 17-hydroxypregnenolone in full-term and preterm neonates at birth and during the early neonatal period. J Clin Endocrinol Metab (2002) 0.81
Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001. Hum Reprod (2005) 0.81
Satoyoshi syndrome: a rare multisystemic disorder requiring systemic and symptomatic treatment. Brain Dev (2006) 0.80
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita. Hum Mutat (2005) 0.79
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. J Clin Endocrinol Metab (2008) 0.79
Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: consequences for patient management. Eur J Endocrinol (2004) 0.79
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). Horm Res (2009) 0.78
Treatment of pubertal gynecomastia with the specific aromatase inhibitor anastrozole. Horm Res (2004) 0.78
Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. Am J Nephrol (2004) 0.78
Serum concentrations of adrenal steroids and their precursors as a measure of maturity of adrenocortical function in very premature newborns. Horm Res Paediatr (2010) 0.78
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. J Clin Endocrinol Metab (2006) 0.78
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions. J Mol Med (Berl) (2005) 0.76
Screening for Turner's syndrome by chromosome analysis of all girls with short stature. J Pediatr (2002) 0.75
Pharmacokinetics and degree of aromatization rather than total dose of different preparations determine the effects of testosterone: a nonhuman primate study in Macaca fascicularis. J Androl (2003) 0.75
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia. Horm Res Paediatr (2012) 0.75
Combined treatment with testosterone (T) and ethinylestradiol (EE2) in constitutionally tall boys: is treatment with T plus EE2 more effective in reducing final height in tall boys than T alone? J Clin Endocrinol Metab (2002) 0.75
Long-term follow-up of spontaneous development in a boy with familial male precocious puberty. Horm Res (2004) 0.75
Disproportionate stature but normal height in hypochondroplasia. Eur J Pediatr (2005) 0.75
Long-term suppression of pituitary-gonadal function with three-month depot of leuprorelin acetate in a girl with central precocious puberty. Horm Res (2002) 0.75