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Article
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that...
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Article
Development of a Highly Sensitive Nonisotopic Immunoassay for the Determination of Salivary 17-Hydroxyprogesterone: Reference Ranges throughout Childhood and Adolescence
A sensitive nonisotopic immunoassay for the determination of 17-hydroxyprogesterone (17-OHP) levels in saliva was developed. The new time-resolved fluorometric immunoassay employs a specific polyclonal anti-17...
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Article
Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel
The human amiloride-sensitive epithelial sodium channel (ENaC) is a member of the degenerin/ENaC family of ion channels and regulates fluid and electrolyte absorption across a number of epithelia, including k...
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Article
Adrenocortical Steroids in Small-for-Gestational-Age Term Infants during the Early Neonatal Period1,2
ABSTRACT: We evaluated adrenocortical steroid concentrations at birth and during postnatal adaptation (2 h until 7 days) in 10 vaginally delivered term small-for-gestational- age (SGA) infants and 12 term appr...
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Article
Plasma Mineralocorticoids, Glucocorticoids, and Progestins in Premature Infants: Longitudinal Study during the First Week of Life
ABSTRACT: Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyproges-terone, 11-deoxycortisol, cortisol, and cortisone were measured simultaneously by a micromethod of...
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Article
117 PRENATAL TREATMENT OF A GIRL WITH 21-HYDROXYLASE DEFICIENCY (CAH)
The possibility of prenatal diagnosis of CAH by steroid determinations and HLA ty** in amniotic fluid and the knowledge that Dexamethasone (Dexa) crosses the placental barrier induced attempts on prenatal tr...
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Article
85 SIGNIFICANCE OF THE ADRENALS AND THE TESTES FOR THE PRODUCTION OF TESTOSTERONE (T) AND ANDROSTENEDIONE (A) DURING MALE INFANCY
We previously reported high concentrations of T in infantile testes during the first 4 months of life and a sharp decline thereafter corresponding well to the plasma concentrations of T in this age group. Test...
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Article
17α-Propylmesterolone (SH 434): an antiandrogenic sebosuppressive substance not influencing circulating testosterone concentrations
17α-Propylmesterolone is a new synthetic 5α-reduced steroid with a propyl group in C-17 position and a methyl group in the A ring. The antiandrogenic action of 17α-propylmesterolone on the sebaceous glands, te...
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Article
Plasma Levels of Aldosterone, Corticosterone, 11-Deoxycorticosterone, Progesterone, 17-Hydroxyprogesterone, Cortisol, and Cortisone During Infancy and Childhood
Summary: Plasma aldosterone (A), corticosterone (B), deoxycorticosterone (DOC), progesterone (P), 17-hydroxyprogesterone (17-OHP), cortisol (F), and cortisone (E) were measured simultaneously by specific radio...
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Article
Genetic linkage studies between congenital adrenal hyperplasia and the HLA blood group system
Seventeen families with one or two children suffering from congenital adrenal hyperplasia (CAH) were not only typed for their HLA-A,B, and D antigens but also tested biochemically forCAH heterozygosity after ACTH...
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Article
Plasma testosterone and estrogens in pubertal gynecomastia
Plasma levels of testosterone, estrone, and estradiol were measured in healthy males of all developmental stages and compared to the values of adolescents suffering from gynecomastia. There was no difference b...
