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Article
Physiopathologie et classification des anomalies du développement génitosexuel
Depuis 2005, la révision de la nomenclature, la nouvelle classification des anomalies du développement génitosexuel chez l’homme (DSD) et la découverte de nombreux gènes impliqués dans la détermination gonadiq...
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Article
Absence de corrélation génotype-phénotype dans les absences de canaux déférents
L’absence des canaux déférents est une cause rare d’infertilité masculine associée dans 80% des cas à des mutations sur le géne de la mucoviscidose. Cependant, les corrélations entre le génotype et le phénotyp...
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Article
Wavelength Dispersion of Optical Power Limiting in Stilbene3 Analyzed within a Three Level Model
Nonlinear transmission in a dye (stilbene3) exhibiting two-photon absorption (TPA) has been studied has a function of wavelength, in the visible range using nanosecond laser pulses. The results have been analy...
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Chapter and Conference Paper
The 3β-Hydroxysteroid Dehydrogenase/Isomerase Gene Family: Lessons from Type II 3β-HSD Congenital Deficiency
The membrane-bound nicotinamide adenine dinucleotide (NAD+)-dependent 3β-hydroxysteroid dehydrogenase /Δ5-Δ4-isomerase (3β-HSD), located in the endoplasmic reticulum and in mitochondrial membrane (Chapman et al. ...
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Article
MOLECULAR BASIS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 3β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
Classical 3β-hydroxysteroid dehydrogenase/Δ5-Δ/) isomerase (3β-HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia (CAH). In contrast to CAH due to 21-hydroxylase and 11β-hydroxyla...
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Article
RELATIONSHIP BETWEEN GENOTYPE AND PHENOTYPE TN GERMAN FAMILIES WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) DUE TO 21 HYDROXYLASE DEFICIENCY
In 13 unrelated CAH families (2 with 2 patients) from Berlin, Germany, the CYP21B gene and its region were studied to establish if the incidence of each genetic lesion and the relationship between genotype and...
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Article
PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
Prenatal diagnosis of the classic forms of the congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has progressed at the same time as the advances made in the field of both endocrinology and ...
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Article
Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population
In 237 French families with cystic fibrosis (CF) restricted fragment length polymorphisms (RFLPs) were detected by two DNa probes, XV-2c and KM-19, which are tightly linked to the CF allele. As in other Europe...
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Article
LONG TERM FOLLOW-UP OF LHRH-A TREATMENT OF PRECOCIOUS PUBERTY BY URINARY GONADOTROPINS (UG): ESCAPE OF FSH DESENSITIZATION IN GIRLS
The amounts of gonadotrophins in 24 h urines (U-LH, U-FSH) reflect spontaneous gonadotrophin secretion and should be taken as a good marker of the onset of puberty. Thirteen cases of precocious puberty (10 gir...
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Article
RESTRICTION MAPPING OF 21-HYDROXYLASE (21-OH) GENES IN CONGENITAL ADRENAL HYPERPLASIA (C.A.H.)
C.A.H. due to 21-OH deficiency is an inherited recessive disorder linked to the HLA-B locus on the chromosome 6. In human beings, there are two 21-OH genes (A and B) located near C4 genes in the major histocom...
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Article
CUSHING'S SYNDROME BY ECTOPIC ACTH SECRETION: EFFECT OF MIFEPRISTONE
Mifepristone (RU 486 - Roussel-Udlaf), an antiglucorticoid receptor with no agonist activity, has been proposed as treatment of hyper-cortisolism in adults. A 27 month old girl presented a Cushing's syndrome, ...
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Article
BIOACTIVE LUTEOTROPIN (LH) IN URINE: NYCTHEMERAL VARIATION IN BIOLOGICAL POTENCY IN MID-PUBERTY
A previous work (Arch.Fr.Pediatr. 1985,42, 579) has shown the usefulness of immunoassayabled (I) urinary LH levels for assessing gonadotropic function in children and adolescents. To further investigate the physi...