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.
Published in The journal of clinical endocrinology and metabolism (01.03.2005)
Published in The journal of clinical endocrinology and metabolism (01.03.2005)
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Journal Article
New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)
Bashamboo, A., Ledig, S., Wieacker, P., Achermann, J.C., McElreavey, K.
Published in Sexual Development (01.09.2010)
Published in Sexual Development (01.09.2010)
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Journal Article
Survival with trisomy 18-data from Switzerland
Niedrist, D., Riegel, M., Achermann, J., Schinzel, A.
Published in American journal of medical genetics. Part A (01.05.2006)
Published in American journal of medical genetics. Part A (01.05.2006)
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Journal Article
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies
Farrugia, M.K, Sebire, N.J, Achermann, J.C, Eisawi, A, Duffy, P.G, Mushtaq, I
Published in Journal of pediatric urology (01.04.2013)
Published in Journal of pediatric urology (01.04.2013)
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Journal Article
Birth after TESE–ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation
Frapsauce, C., Ravel, C., Legendre, M., Sibony, M., Mandelbaum, J., Donadille, B., Achermann, J.C., Siffroi, J.-P., Christin-Maitre, S.
Published in Human reproduction (Oxford) (01.03.2011)
Published in Human reproduction (Oxford) (01.03.2011)
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Journal Article
A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency
Brooke, A. M., Taylor, N. F., Shepherd, J. H., Gore, M. E., Ahmad, T., Lin, L., Rumsby, G., Papari-Zareei, M., Auchus, R. J., Achermann, J. C., Monson, J. P.
Published in The journal of clinical endocrinology and metabolism (01.06.2006)
Published in The journal of clinical endocrinology and metabolism (01.06.2006)
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Journal Article
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
Shaikh, M G, Boyes, L, Kingston, H, Collins, R, Besley, G T N, Padmakumar, B, Ismayl, O, Hughes, I, Hall, C M, Hellerud, C, Achermann, J C, Clayton, P E
Published in Journal of medical genetics (01.09.2008)
Published in Journal of medical genetics (01.09.2008)
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Journal Article
Persistent unexplained congenital clitoromegaly in females born extremely prematurely
Williams, C.E, Nakhal, R.S, Achermann, J.C, Creighton, S.M
Published in Journal of pediatric urology (01.12.2013)
Published in Journal of pediatric urology (01.12.2013)
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Journal Article
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression
ACHERMANNT, John C, ITO, Masafumi, SILVERMAN, Bernard L, HABIBY, Reema L, SONGYA PANG, ROSLER, Ariel, JAMESON, J. Larry
Published in The journal of clinical endocrinology and metabolism (01.07.2001)
Published in The journal of clinical endocrinology and metabolism (01.07.2001)
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Journal Article
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
REUTENS, A. T, ACHERMANN, J. C, ITO, Masafumi, ITO, Mika, GU, W.-X, HABIBY, R. L, DONOHOUE, P. A, SONGYA PANG, HINDMARSH, P. C, JAMESON, J. L
Published in The journal of clinical endocrinology and metabolism (01.02.1999)
Published in The journal of clinical endocrinology and metabolism (01.02.1999)
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Journal Article
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
ACHERMANN, J. C, GU, W.-X, CROWLEY, W. F, LAYMAN, L. C, JAMESON, J. L, KOTLAR, T. J, MEEKS, J. J, SABACAN, L. P, SEMINARA, S. B, HABIBY, R. L, HINDMARSH, P. C, BICK, D. P, SHERINS, R. J
Published in The journal of clinical endocrinology and metabolism (01.12.1999)
Published in The journal of clinical endocrinology and metabolism (01.12.1999)
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Journal Article
Phenotypic spectrum of mutations in DAX-1 and SF-1
Achermann, John C., Meeks, Joshua J., Larry Jameson, J.
Published in Molecular and cellular endocrinology (20.12.2001)
Published in Molecular and cellular endocrinology (20.12.2001)
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Journal Article
The role of SF1/DAX1 in adrenal and reproductive function
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Journal Article
Conference Proceeding
Aromatase (Cyp19) Expression is up-Regulated by Targeted Disruption of Dax1
Wang, Zhen J., Jeffs, Baxter, Ito, Masafumi, Achermann, John C., Yu, Richard N., Hales, Dale B., Jameson, J. Larry
Published in Proceedings of the National Academy of Sciences - PNAS (03.07.2001)
Published in Proceedings of the National Academy of Sciences - PNAS (03.07.2001)
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Journal Article