Achermann, John C.

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Achermann, J. C., Ito, M., Ito, M., Hindmarsh, P. C., & Jameson, J. L. (1999) · Nature Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 709

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner

Achermann, J. C., Ozisik, G., Ito, M., Orun, U. A., Harmanci, K., Gurakan, B., & Jameson, J. L. (2002) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 305

Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

Semple, R. K., Achermann, J. C., Ellery, J., Farooqi, I. S., Karet, F. E., Stanhope, R. G., O’Rahilly, S., & Aparicio, S. A. (2005) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGrowth Hormone and Insulin-like Growth Factors

Cited by 291

Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

Lin, L., Gu, W.-X., Ozisik, G., To, W. S., Owen, C. J., Jameson, J. L., & Achermann, J. C. (2006) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 210

Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort

Guran, T., Buonocore, F., Saka, N., Ozbek, M. N., Aycan, Z., Bereket, A., Bas, F., Darcan, S., Bideci, A., Guven, A., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 207

Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

Baker, B. Y., Lin, L., Kim, C. J., Raza, J., Smith, C. P., Miller, W. L., & Achermann, J. C. (2006) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 194

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

Tabarin, A., Achermann, J. C., Recan, D., Bex, V., Bertagna, X., Christin-Maitre, S., Ito, M., Jameson, J. L., & Bouchard, P. (2000) · Journal of Clinical Investigation

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 187

Phenotypic spectrum of mutations in DAX-1 and SF-1

Achermann, J. C., Meeks, J. J., & Larry Jameson, J. (2001) · Molecular and Cellular Endocrinology

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 163

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Metherell, L. A., Naville, D., Halaby, G., Begeot, M., Huebner, A., Nürnberg, G., Nürnberg, P., Green, J., Tomlinson, J. W., Krone, N. P., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 162

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

Kim, C. J., Lin, L., Huang, N., Quigley, C. A., AvRuskin, T. W., Achermann, J. C., & Miller, W. L. (2008) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 139

Holistic management of DSD

Brain, C. E., Creighton, S. M., Mushtaq, I., Carmichael, P. A., Barnicoat, A., Honour, J. W., Larcher, V., & Achermann, J. C. (2010) · Best Practice & Research Clinical Endocrinology & Metabolism

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

Cited by 126

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Hiort, O., Holterhus, P.-M., Werner, R., Marschke, C., Hoppe, U., Partsch, C.-J., Riepe, F. G., Achermann, J. C., & Struve, D. (2005) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 120

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR)

Sahakitrungruang, T., Soccio, R. E., Lang-Muritano, M., Walker, J. M., Achermann, J. C., & Miller, W. L. (2010) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 91

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

Flück, C. E., Maret, A., Mallet, D., Portrat-Doyen, S., Achermann, J. C., Leheup, B., Theintz, G. E., Mullis, P. E., & Morel, Y. (2005) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 59

Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia

Achermann, J. C., Meeks, J. J., Jeffs, B., Das, U., Clayton, P. E., Brook, C. G. D., & Jameson, J. L. (2001) · Molecular Genetics and Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 28