Chaussain, Jean-Louis

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. (2003) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 2,431

Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

Aubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., et al. (1990) · New England Journal of Medicine

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 366

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. (2000) · Nature Genetics

Adrenal Hormones and DisordersGenomics and Rare Diseases

Cited by 312

Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study

Carel, J.-C., Elie, C., Ecosse, E., Tauber, M., Léger, J., Cabrol, S., Nicolino, M., Brauner, R., Chaussain, J.-L., & Coste, J. (2006) · The Journal of Clinical Endocrinology & Metabolism

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 152

Aetiological diagnosis of male sex ambiguity: a collaborative study

Morel, Y., Rey, R., Teinturier, C., Nicolino, M., Michel-Calemard, L., Mowszowicz, I., Jaubert, F., Fellous, M., Chaussain, J.-L., Chatelain, P., et al. (2002) · European Journal of Pediatrics

Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 133

New Insight into the Molecular Basis of 3β-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 Enzymes1

Moisan, A. M., Ricketts, M. L., Tardy, V., Desrochers, M., Mébarki, F., Chaussain, J.-L., Cabrol, S., Raux-Demay, M. C., Forest, M. G., Sippell, W. G., et al. (1999) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 107

Glycemic response to 24-hour fast in normal children, III: influence of age

Chaussain, J.-L., Georges, P., Calzada, L., & Job, J.-C. (1977) · The Journal of Pediatrics

Dietary Effects on HealthDiabetes Management and Research

Cited by 67

Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome

Linglart, A., Cabrol, S., Berlier, P., Stuckens, C., Wagner, K., de Kerdanet, M., Limoni, C., Carel, J.-C., Chaussain, J.-L., & _, _. (2011) · European Journal of Endocrinology

Growth Hormone and Insulin-like Growth FactorsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 61

Deletion Hybrid Genes, due to Unequal Crossing Over between CYP11B1(11β-Hydroxylase) and CYP11B2(Aldosterone Synthase) Cause Steroid 11β-Hydroxylase Deficiency and Congenital Adrenal Hyperplasia1

Portrat, S., Mulatero, P., Curnow, K. M., Chaussain, J.-L., Morel, Y., & Pascoe, L. (2001) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 46

Frequency of hypoglycemia in children with adrenal insufficiency

Artavia-Loria, E., Chaussain, J. L., Bougnères, P. F., & Job, J. C. (1986) · Acta Endocrinologica

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 40

Adrenoleukodystrophy: the most frequent genetic cause of Addison’s disease

Aubourg, P., & Chaussain, J.-L. (2003) · Hormone Research in Paediatrics

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 19