| P2093 | author name string | Felix G Riepe | |
| | Wolfgang G Sippell | |
| P2860 | cites work | R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions | Q24293753 |
| | Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification | Q24530153 |
| | Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society | Q28203982 |
| | Mutations in steroid 21-hydroxylase (CYP21) | Q28247814 |
| | Congenital adrenal hyperplasia: management during critical illness | Q28367341 |
| | Characterization of frequent deletions causing steroid 21-hydroxylase deficiency | Q33582394 |
| | Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia | Q33677305 |
| | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q33905972 |
| | Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism | Q33907184 |
| | High Prevalence of Testicular Adrenal Rest Tumors, Impaired Spermatogenesis, and Leydig Cell Failure in Adolescent and Adult Males with Congenital Adrenal Hyperplasia | Q34104596 |
| | Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis | Q34124713 |
| | Growth suppression by glucocorticoid therapy | Q34403679 |
| | Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings | Q34409036 |
| | High frequency of nonclassical steroid 21-hydroxylase deficiency | Q34465309 |
| | NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q34534232 |
| | The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphrodism) | Q34537924 |
| | Hypoglycaemia during illness in children with congenital adrenal hyperplasia | Q34554911 |
| | Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia | Q34566341 |
| | Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone | Q34587904 |
| | Congenital adrenal hyperplasia and P450 oxidoreductase deficiency | Q34602068 |
| | Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q35094811 |
| | Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency | Q35246457 |
| | Obesity in 21-hydroxylase deficient patients | Q35258788 |
| | Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients | Q35273146 |
| | Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q35605548 |
| | Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone. | Q35649649 |
| | Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise | Q45005990 |
| | Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. | Q45005996 |
| | Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency | Q45193728 |
| | Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia | Q46547448 |
| | Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. | Q46767726 |
| | Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q46882318 |
| | Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty | Q47301206 |
| | Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study | Q47316701 |
| | Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia | Q47386996 |
| | Neonatal dexamethasone therapy: short- and long-term consequences | Q48347953 |
| | Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients. | Q48376702 |
| | Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden | Q50899622 |
| | Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Q51482019 |
| | Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia | Q51767647 |
| | Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice | Q51983721 |
| | Congenital adrenal hyperplasia | Q52010571 |
| | Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice | Q52056792 |
| | Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia | Q52170021 |
| | A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia | Q52199745 |
| | How safe is long-term prenatal glucocorticoid treatment? | Q53599189 |
| | Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry | Q53905455 |
| | Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia | Q54023387 |
| | Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. | Q55036439 |
| | Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | Q55067438 |
| | Congenital adrenal hyperplasia | Q56483508 |
| | Prenatal Androgenization Affects Gender-Related Behavior But Not Gender Identity in 5–12-year-Old Girls with Congenital Adrenal Hyperplasia | Q57800230 |
| | Congenital Adrenal Hyperplasia: Lessons from a Multinational Study | Q58025255 |
| | Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group | Q67381707 |
| | Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency | Q67941189 |
| | The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives | Q68580040 |
| | Frequency of hypoglycemia in children with adrenal insufficiency | Q68741662 |
| | Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q68811525 |
| | Different gene defects in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH) | Q69878246 |
| | Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth | Q70151133 |
| | Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency | Q70228775 |
| | Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction | Q70807887 |
| | 17 alpha-hydroxyprogesterone, 4-androstenedione, and testosterone profiled by routine stable isotope dilution/gas chromatography-mass spectrometry in plasma of children | Q71527686 |
| | Growth hormone, insulin-like growth factor and the kidney | Q71754616 |
| | Steroid 21-hydroxylase deficiency: genotype may not predict phenotype | Q71942314 |
| | Fetal androgens and female gender identity in the early-treated adrenogenital syndrome | Q72036033 |
| | Adrenaline: a physiological metabolic regulatory hormone in humans? | Q72283960 |
| | Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation | Q72404081 |
| | Dexamethasone treatment of virilizing congenital adrenal hyperplasia: the ability to achieve normal growth | Q73031092 |
| | Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency | Q73168559 |
| | Effect of newborn screening for congenital adrenal hyperplasia | Q73256585 |
| | Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany | Q73555573 |
| | Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population | Q73784944 |
| | Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries | Q74154645 |
| | Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency | Q74191726 |
| | Evaluation of neonatal screening for congenital adrenal hyperplasia | Q74615045 |
| | Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood | Q77067398 |
| | Treatment of glucocorticoid-induced growth suppression with growth hormone. National Cooperative Growth Study | Q77114135 |
| | Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies | Q77337714 |
| | Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population | Q77617350 |
| | Effect of adrenaline on glucose kinetics during exercise in adrenalectomised humans | Q78157475 |
| | Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q79143017 |
| | Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia | Q79219779 |
| | A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency | Q79362282 |
| | Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q79434611 |
| | Identification of a novel population of adrenal-like cells in the mammalian testis | Q80205215 |
| | Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry | Q80210513 |
| | Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors | Q80366777 |
| | Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise | Q80400492 |
| | Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue | Q80535521 |
| | Neonatal screening in Europe; the situation in 2004 | Q80580230 |
| | The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia | Q80669751 |
| | Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q83198158 |
| | Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). | Q35789890 |
| | Measurement of psychosexual differentiation | Q36190503 |
| | Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia | Q36190509 |
| | Glucoregulation during exercise : the role of the neuroendocrine system | Q36198527 |
| | Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man | Q36422991 |
| | Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound | Q36541744 |
| | How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? | Q36697527 |
| | Metabolic syndrome, or What you will: definitions and epidemiology | Q36806518 |
| | Carotid-artery intima and media thickness as a risk factor for myocardial infarction and stroke in older adults. Cardiovascular Health Study Collaborative Research Group | Q36900139 |
| | Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations | Q37141446 |
| | HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation | Q37579085 |
| | Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. | Q39228653 |
| | Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone | Q40130483 |
| | Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q40280358 |
| | Human behavioral sex differences: A role for gonadal hormones during early development? | Q40465141 |
| | Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome | Q40899462 |
| | Prenatal diagnosis and treatment of 21-hydroxylase deficiency | Q40901389 |
| | Modulation of 11beta-hydroxysteroid dehydrogenase isozymes by growth hormone and insulin-like growth factor: in vivo and in vitro studies | Q40917509 |
| | Current status of neonatal screening for congenital adrenal hyperplasia | Q41595777 |
| | Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots. | Q42164324 |
| | Effects of Long-Term Growth Hormone Therapy on Adrenal Steroidogenesis in Turner Syndrome | Q42454524 |
| | Hypoglycemia during illness in children with congenital adrenal hyperplasia | Q43254294 |
| | Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q43543386 |
| | Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. | Q43598144 |
| | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty. | Q43633872 |
| | Long term outcome in adult males with classic congenital adrenal hyperplasia | Q43666505 |
| | Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory? | Q43766399 |
| | The Importance of Adrenocortical Glucocorticoids for Adrenomedullary and Physiological Response to Stress: A Study in Isolated Glucocorticoid Deficiency | Q43819868 |
| | Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis | Q43867594 |
| | Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency | Q43957116 |
| | Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications | Q43982442 |
| | Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. | Q44005152 |
| | Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands | Q44013102 |
| | Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency. | Q44055114 |
| | The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens | Q44089055 |
| | High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland | Q44126971 |
| | Management of congenital adrenal hyperplasia: results of the ESPE questionnaire | Q44153337 |
| | A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele | Q44337612 |
| | Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia | Q44357198 |
| | Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report | Q44406155 |
| | Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management | Q44467054 |
| | Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus | Q44504426 |
| | Effects of Combined Gonadotropin-Releasing Hormone Agonist and Growth Hormone Therapy on Adult Height in Precocious Puberty: A Further Contribution | Q44599143 |
| | Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency | Q44601255 |
| | Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry | Q44680884 |
| | CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency | Q44690220 |
| | Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise | Q44757088 |
| P433 | issue | 4 | |
| P921 | main subject | congenital disorder | Q727096 |
| | congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Q4127185 |
| P304 | page(s) | 349-363 | |
| P577 | publication date | 2007-12-01 | |
| P13046 | publication type of scholarly work | review article | Q7318358 |
| P1433 | published in | Reviews in Endocrine and Metabolic Disorders | Q15766899 |
| P1476 | title | Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| P478 | volume | 8 | |