|1|Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia. (23211577)
Falhammar H.... ThorAcn M.
|2|Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia. (24355077)
Serino D.... Fusco L.
|3|Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. (23969190)
Reisch N.... Beuschlein F.
|4|Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
Ramaswamy M.... Stewart M.F.
|5|Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency. (21050254)
Reisch N.... Quinkler M.
|6|Giant ovarian cyst in a woman with congenital adrenal hyperplasia disappeared after adjustment of glucocorticoid therapy. (20467184)
Wakakuri H.... Usuda R.
|7|Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. (19567522)
Bryan S.M.... Hindmarsh P.C.
|8|Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. (19786796)
Dumic K.... Stingl K.
|9|Neonatal screening for congenital adrenal hyperplasia. (19690561)
|10|Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (18923840)
Tahirovic H.... Dumic K.
|11|Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. (19263525)
Concolino P.... Capoluongo E.
|12|A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation. (18362511)
Falhammar H.... Hagenfeldt K.
|13|Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience. (18493149)
Hoepffner W.... Keller E.
|14|Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report. (18996819)
Mapas-Dimaya A.C.... Sacerdote A.S.
|15|In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype. (17505149)
Wasniewska M.... De Luca F.
|16|Adult consequences of congenital adrenal hyperplasia. (18174737)
Arlt W.... Krone N.
|17|Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (18174719)
|18|Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. Commentary on Simm PJ and Zacharin MR: Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene (Horm Res 2007;68:294-297). (17726334)
|19|Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche. (17315534)
|20|Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (17937061)
Trinh L.... Lin-Su K.
|21|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. (16670167)
Krone N.... Riepe F.G.
|22|Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia. (15737123)
Travitz J.... Holmes L.B.
|23|Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (15483094)
Krone N.... Sippell W.G.
|24|Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency. (15608154)
KAPsel S.... OlgemAPller B.
|25|Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). (15858147)
Keen-Kim D.... Fenwick R.G.
|26|Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program. (15818055)
Cavarzere P.... TatA^ L.
|27|A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. (15985476)
FlA1ck C.E.... Morel Y.
|28|Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (14676461)
Christiansen P.... MA1ller J.
|29|Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report. (12699440)
Roche E.F.... Hindmarsh P.C.
|30|Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. (12887291)
Dolzan V.... Battelino T.
|31|Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effects. (12679470)
Merke D.P.... Giedd J.N.
|32|Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience. (12729404)
Brunelli V.L.... Chiumello G.
|33|Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? (11919101)
Charmandari E.... Hindmarsh P.C.
|34|Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. (12028996)
Krone N.... Sippell W.G.
|35|Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia. (11296811)
Trakakis E.... Creatsas G.
|36|Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. (11443188)
Portrat S.... Pascoe L.
|37|Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. (11571713)
Yang Y.P.... Garcia-Heras J.
|38|Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. (10700722)
Shima M.... Okada S.
|39|Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia. (10381826)
Van de Velde H.... Liebaers I.
|40|Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21- hydroxylase deficiency alleles associated with the classic form of the disease. (10364682)
Lobato M.N.... Meseguer A.
|41|Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. (10323391)
Korsch E.... Bergmann M.
|42|Prenatal treatment of congenital adrenal hyperplasia. (10411084)
|43|Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. (7621563)
Brunelli V.L.... Forest M.G.
|44|Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans. (7925109)
Gotoh H.... Moriwaki K.
|45|Personality characteristics and platelet MAO activity in women with congenital adrenal hyperplasia (CAH). (8416045)
Helleday J.... Siwers B.
|46|Prenatal diagnosis of congenital lipoid adrenal hyperplasia. (8469492)
Izumi H.... Kaneoka T.
|47|Prenatal treatment of congenital adrenal hyperplasia: report of a new case. (2406146)
Loeuille G.A.... Forest M.G.
|48|Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination. (1971375)
Peter M.... Grosse-Wilde H.
|49|Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease. (6254362)
Lobo R.A.... Goebelsmann U.
|50|Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). (872430)
Koizumi S.... Funabashi T.