Follow
John Achermann
John Achermann
Professor of Paediatric Endocrinology, UCL
Verified email at ucl.ac.uk
Title
Cited by
Cited by
Year
Consensus statement on management of intersex disorders.
LPA Hughes IA, Houk C, Ahmed SF, LC Group., EC Group.
Arch Dis Child 91 (7), 554-563, 2006
2142*2006
Consensus statement on management of intersex disorders
PA Lee, CP Houk, SF Ahmed, IA Hughes, ...
Pediatrics 118 (2), e488-e500, 2006
13962006
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
JC Achermann, M Ito, M Ito, PC Hindmarsh, JL Jameson
Nature genetics 22 (2), 125-126, 1999
8031999
Mutations in NR5A1 Associated with Ovarian Insufficiency
D Lourenço, R Brauner, L Lin, A De Perdigo, G Weryha, M Muresan, ...
New England Journal of Medicine 360 (12), 1200-1210, 2009
4342009
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
D Kelberman, K Rizzoti, A Avilion, M Bitner-Glindzicz, S Cianfarani, ...
The Journal of clinical investigation 116 (9), 2442-2455, 2006
4092006
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism
RK Semple, JC Achermann, J Ellery, IS Farooqi, FE Karet, RG Stanhope, ...
The Journal of Clinical Endocrinology & Metabolism 90 (3), 1849-1855, 2005
3512005
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner
JC Achermann, G Ozisik, M Ito, UA Orun, K Harmanci, B Gurakan, ...
The Journal of Clinical Endocrinology & Metabolism 87 (4), 1829-1833, 2002
3352002
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
A Bashamboo, B Ferraz-de-Souza, D Lourenço, L Lin, NJ Sebire, ...
The American Journal of Human Genetics 87 (4), 505-512, 2010
2622010
Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of Testis Development
L Lin, JC Achermann
Sexual Development 2 (4-5), 200-209, 2008
2462008
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
SF Ahmed, JC Achermann, W Arlt, A Balen, G Conway, Z Edwards, ...
Clinical endocrinology 84 (5), 771-788, 2016
2432016
Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal …
L Lin, P Philibert, B Ferraz-de-Souza, D Kelberman, T Homfray, ...
The Journal of Clinical Endocrinology & Metabolism 92 (3), 991-999, 2007
2272007
Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience
L Lin, WX Gu, G Ozisik, WS To, CJ Owen, JL Jameson, JC Achermann
The Journal of Clinical Endocrinology & Metabolism 91 (8), 3048-3054, 2006
2252006
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
JP Suntharalingham, F Buonocore, AJ Duncan, JC Achermann
Best practice & research Clinical endocrinology & metabolism 29 (4), 607-619, 2015
2192015
X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females
SB Seminara, JC Achermann, M Genel, JL Jameson, WF Crowley Jr
The Journal of Clinical Endocrinology & Metabolism 84 (12), 4501-4509, 1999
2171999
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
A Tabarin, JC Achermann, D Recan, V Bex, X Bertagna, S Christin-Maitre, ...
The Journal of clinical investigation 105 (3), 321-328, 2000
2092000
Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita
AT Reutens, JC Achermann, M Ito, M Ito, WX Gu, RL Habiby, ...
The Journal of Clinical Endocrinology & Metabolism 84 (2), 504-511, 1999
2091999
Summary of consensus statement on intersex disorders and their management
CP Houk, IA Hughes, SF Ahmed, PA Lee, ...
Pediatrics 118 (2), 753-757, 2006
2082006
SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
D Kelberman, SCP De Castro, S Huang, JA Crolla, R Palmer, JW Gregory, ...
The Journal of Clinical Endocrinology & Metabolism 93 (5), 1865-1873, 2008
2002008
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
VA Arboleda, H Lee, R Parnaik, A Fleming, A Banerjee, ...
Nature genetics 44 (7), 788-792, 2012
1982012
Steroidogenic factor-1 (SF-1, NR5A1) and human disease
B Ferraz-de-Souza, L Lin, JC Achermann
Molecular and cellular endocrinology 336 (1-2), 198-205, 2011
1972011
The system can't perform the operation now. Try again later.
Articles 1–20