| New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. Moisan A.M., Ricketts M.L., Tardy V., Desrochers M., Mebarki F., Chaussain J.-L., Cabrol S., Raux-Demay M.C., Forest M.G., Sippell W.G. et al.
J. Clin. Endocrinol. Metab. 84:4410-4425(1999) · UniProtKB (1) |
| Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency. Morel Y., Mebarki F., Rheaume E., Sanchez R., Forest M.G., Simard J.
Steroids 62:176-184(1997) · Mapped (5) |
| Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J., Morel Y., Schaison G.
J. Clin. Endocrinol. Metab. 81:2994-2998(1996) · UniProtKB (1) |
| Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD. Rheaume E., Sanchez R., Mebarki F., Gagnon E., Carel J.-C., Chaussain J.-L., Morel Y., Labrie F., Simard J.
Biochemistry 34:2893-2900(1995) · UniProtKB (1) |
| Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia. Sanchez R., Mebarki F., Rheaume E., Laflamme N., Forest M.G., Bey-Omar F., David M., Morel Y., Labrie F., Simard J.
Hum. Mol. Genet. 3:1639-1645(1994) · UniProtKB (1) |
| Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene. Mebarki F., Sanchez R., Rheaume E., Laflamme N., Simard J., Forest M.G., Bey-Omar F., David M., Labrie F., Morel Y.
J. Clin. Endocrinol. Metab. 80:2127-2134(1995) · UniProtKB (1) |
| Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. Rheaume E., Simard J., Morel Y., Mebarki F., Zachmann M., Forest M.G., New M.I., Labrie F.
Nat. Genet. 1:239-245(1992) · UniProtKB (1) |
