11 results for author:"Chaussain J.-L." in Literature citations
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| Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. de Roux N., Genin E., Carel J.-C., Matsuda F., Chaussain J.-L., Milgrom E. Proc. Natl. Acad. Sci. U.S.A. 100:10972-10976(2003) · UniProtKB (1) · Mapped (1) |
| PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. Vallette-Kasic S., Barlier A., Teinturier C., Diaz A., Manavela M., Berthezene F., Bouchard P., Chaussain J.-L., Brauner R., Pellegrini-Bouiller I. et al. J. Clin. Endocrinol. Metab. 86:4529-4535(2001) · UniProtKB (1) |
| Mutant WD-repeat protein in triple-A syndrome. Tullio-Pelet A., Salomon R., Hadj-Rabia S., Mugnier C., de Laet M.-H., Chaouachi B., Bakiri F., Brottier P., Cattolico L., Penet C. et al. Nat. Genet. 26:332-335(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) |
| Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. Duquesnoy P., Roy A., Dastot F., Ghali I., Teinturier C., Netchine I., Cacheux V., Hafez M., Salah N., Chaussain J.-L. et al. FEBS Lett. 437:216-220(1998) · UniProtKB (1) |
| 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) |
| A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.-L., Sultan C. Fertil. Steril. 60:814-819(1993) · UniProtKB (1) |
| Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.-L., Sultan C. J. Steroid Biochem. Mol. Biol. 44:211-216(1993) · UniProtKB (1) · Mapped (10) |
| Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G., Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C. Clin. Endocrinol. (Oxf.) 40:297-302(1994) · 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) |
| Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Kosugi S., van Dop C., Geffner M.E., Rabl W., Carel J.-C., Chaussain J.-L., Mori T., Merendino J.J. Jr., Shenker A. Hum. Mol. Genet. 4:183-188(1995) · UniProtKB (1) |