| 21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. Forest M.G., Tardy V., Nicolino M., David M., Morel Y.
Ann. Endocrinol. (Paris) 66:225-232(2005) · Mapped (33) |
| 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. Biason-Lauber A., Kempken B., Werder E., Forest M.G., Einaudi S., Ranke M.B., Matsuo N., Brunelli V., Schoenle E.J., Zachmann M.
J. Clin. Endocrinol. Metab. 85:1226-1231(2000) · UniProtKB (1) |
| 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) |
| Receptors for anti-mullerian hormone on Leydig cells are responsible for its effects on steroidogenesis and cell differentiation. Racine C., Rey R., Forest M.G., Louis F., Ferre A., Huhtaniemi I., Josso N., di Clemente N.
Proc. Natl. Acad. Sci. U.S.A. 95:594-599(1998) · Mapped (2) |
| Hormonal and cellular regulation of Sertoli cell anti-Mullerian hormone production in the postnatal mouse. Al-Attar L., Noel K., Dutertre M., Belville C., Forest M.G., Burgoyne P.S., Josso N., Rey R.
J. Clin. Invest. 100:1335-1343(1997) · Mapped (3) |
| 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) |
| Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. Russell A.J., Wallace A.M., Forest M.G., Donaldson M.D., Edwards C.R., Sutcliffe R.G.
J. Mol. Endocrinol. 12:225-237(1994) · 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) |
