Published in J Clin Endocrinol Metab on March 01, 1978
High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet (1985) 2.44
170H-progesterone rhythms in congenital adrenal hyperplasia. Arch Dis Child (1988) 1.51
Management of congenital adrenal hyperplasia. Arch Dis Child (1988) 1.41
Circadian patterns of plasma cortisol, 17-hydroxyprogesterone, and testosterone in congenital adrenal hyperplasia. Arch Dis Child (1981) 1.40
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest (1992) 1.40
Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia. Arch Dis Child (1997) 0.92
Does place of birth influence endogenous hormone levels in Asian-American women? Br J Cancer (2002) 0.88
Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal Hyperplasia. Int J Pediatr Endocrinol (2010) 0.79
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Korean Med Sci (2011) 0.75
Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists. Paediatr Child Health (2005) 0.75
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science (1995) 3.29
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci U S A (1985) 3.22
Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab (2008) 2.74
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet (1978) 2.66
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci U S A (1984) 2.56
High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet (1985) 2.44
Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci U S A (1986) 2.34
Growth in congenital rubella syndrome and correlation with clinical manifestations. J Pediatr (1989) 2.02
Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab (2001) 2.01
Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr (1998) 1.99
Turner's syndrome. Lancet (2001) 1.94
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci U S A (1984) 1.89
Fasting glucose insulin ratio: a useful measure of insulin resistance in girls with premature adrenarche. J Clin Endocrinol Metab (2001) 1.88
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab (1983) 1.77
A new form of congenital adrenal hyperplasia. J Clin Endocrinol Metab (1967) 1.72
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet (2000) 1.70
Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab (1977) 1.69
Two steroid 21-hydroxylase genes are located in the murine S region. Nature (1985) 1.58
Three-year follow-up of borderline congenital hypothyroidism. J Pediatr (2000) 1.56
Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet (1986) 1.54
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. J Clin Endocrinol Metab (1999) 1.52
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab (1995) 1.51
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (1988) 1.50
Premature adrenarche--normal variant or forerunner of adult disease? Endocr Rev (2000) 1.47
Magnetic resonance findings and ophthalmologic abnormalities are correlated in patients with neurofibromatosis type 1 (NF1). Am J Med Genet (2000) 1.42
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest (1992) 1.40
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (1988) 1.40
Recent advances in 21-hydroxylase deficiency. Annu Rev Med (1984) 1.39
Early spontaneous regression of a hypothalamic/chiasmatic mass in neurofibromatosis type 1: MR findings. Eur Radiol (2000) 1.39
Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr (1993) 1.38
Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr (1987) 1.37
Congenital adrenal hyperplasia. (1). N Engl J Med (1987) 1.36
HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency. Am J Hum Genet (1981) 1.35
The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization. J Biol Chem (1991) 1.33
Genetic structure at range edge: low diversity and high inbreeding in Southeast Asian mangrove (Avicennia marina) populations. Mol Ecol (2006) 1.32
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing. Lancet (1979) 1.30
Effect of puberty on the relationship between circulating leptin and body composition. J Clin Endocrinol Metab (2000) 1.28
Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion. J Pediatr (1996) 1.27
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. N Engl J Med (1988) 1.26
Current age of onset of puberty. Pediatrics (2000) 1.26
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group. N Engl J Med (1978) 1.25
Congenital adrenal hyperplasia (2). N Engl J Med (1987) 1.24
Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc Natl Acad Sci U S A (1992) 1.23
Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency. Pediatr Res (1984) 1.20
Gender change from female to male in classical congenital adrenal hyperplasia. Horm Behav (1996) 1.20
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest (1991) 1.20
High dose recombinant human growth hormone (GH) treatment of GH-deficient patients in puberty increases near-final height: a randomized, multicenter trial. Genentech, Inc., Cooperative Study Group. J Clin Endocrinol Metab (2000) 1.19
Postpubertal outcome in girls diagnosed of premature pubarche during childhood: increased frequency of functional ovarian hyperandrogenism. J Clin Endocrinol Metab (1993) 1.16
Normative data for adrenal steroidogenesis in a healthy pediatric population: age- and sex-related changes after adrenocorticotropin stimulation. J Clin Endocrinol Metab (1991) 1.16
Nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest (1988) 1.15
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci U S A (1993) 1.14
Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2001) 1.14
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab (1995) 1.14
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol (1991) 1.13
Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics (2001) 1.13
Seven years of safety and efficacy of the recombinant human growth hormone Omnitrope in the treatment of growth hormone deficient children: results of a phase III study. Horm Res (2009) 1.12
Microsatellite analysis of genetic structure in the mangrove species Avicennia marina (Forsk.) Vierh. (Avicenniaceae). Mol Ecol (2000) 1.12
Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. J Clin Invest (1970) 1.12
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab (1979) 1.12
Diet-hormone interactions: protein/carbohydrate ratio alters reciprocally the plasma levels of testosterone and cortisol and their respective binding globulins in man. Life Sci (1987) 1.10
The effect of treatment of final height in classical congenital adrenal hyperplasia (CAH). Acta Endocrinol Suppl (Copenh) (1986) 1.10
A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab (1982) 1.10
Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: results of a pilot study. Psychoneuroendocrinology (1995) 1.08
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab (1998) 1.08
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme. Biochemistry (1994) 1.08
Molecular cloning of multiple cDNAs encoding human enzymes structurally related to 3 alpha-hydroxysteroid dehydrogenase. J Steroid Biochem Mol Biol (1993) 1.06
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab (1996) 1.06
Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. Am J Dis Child (1982) 1.06
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia. J Clin Endocrinol Metab (1979) 1.05
Aldosterone excretion in normal children and in children with adrenal hyperplasia. J Clin Invest (1966) 1.05
Abnormal sex differentiation. J Pediatr (1984) 1.05
Use of leuprolide acetate response patterns in the early diagnosis of pubertal disorders: comparison with the gonadotropin-releasing hormone test. J Clin Endocrinol Metab (1994) 1.05
Serologic detection of a y-linked gene in xx males and xx true hermaphrodites. N Engl J Med (1976) 1.04
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. J Clin Invest (1991) 1.04
A chronobiologic abnormality in luteinizing hormone secretion in teenage girls with the polycystic-ovary syndrome. N Engl J Med (1983) 1.04
Short children, anxious parents: is growth hormone the answer? Hastings Cent Rep (1984) 1.04
Hyperinsulinemia and decreased insulin-like growth factor-binding protein-1 are common features in prepubertal and pubertal girls with a history of premature pubarche. J Clin Endocrinol Metab (1997) 1.03
Bayley-Pinneau method of height prediction in girls with central precocious puberty: correlation with adult height. J Pediatr (1995) 1.03
Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: further evidence for different allelic variants at the 21-hydroxylase locus. Clin Immunol Immunopathol (1982) 1.03
Progressive adrenal failure in polyglandular autoimmune disease. J Clin Endocrinol Metab (1982) 1.03
X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. Am J Hum Genet (1992) 1.02
Blood pressure in childhood and adolescence: the Italian normal standards. Study Group on Hypertension' of the Italian Society of Pediatrics'. J Hypertens (1999) 1.02
Metabolic effects in children of a 37 amino acid fragment of bovine growth hormone. J Clin Endocrinol Metab (1973) 1.02
Comparison of simple measures of insulin sensitivity in young girls with premature adrenarche: the fasting glucose to insulin ratio may be a simple and useful measure. J Clin Endocrinol Metab (2001) 1.02
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab (1982) 1.02