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
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
The role of SF1/DAX1 in adrenal and reproductive function
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Journal Article
Conference Proceeding
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
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
Advances in the Molecular Genetics of Hypogonadotropic Hypergonadism
Achermann, J.C., Jameson, J.L.
Published in Journal of Pediatric Endocrinology and Metabolism (2001)
Published in Journal of Pediatric Endocrinology and Metabolism (2001)
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Journal Article