Prof John Achermann

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Personal Profile

Name: John Achermann Email: j.achermann@ucl.ac.uk
Title: Prof Tel: 0207 905 2887
Department: ICH - Genetics & Epigen in Health & Dis Fax:
Position: Professor of Paediatric Endocrinology Address: UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH
Research Domain: Basic Life Sciences, Genetics (Frontier Disciplines), Populations & Lifelong Health, Reproduction & Development Web Page:  

Profile

Research Description

Our main research interests include the molecular genetics of adrenal and reproductive development and function, and their relevance to human disease or disease susceptibility. Our current research focuses on the role of steroidogenic factor-1 (SF-1) in endocrine development and function, as well as the molecular basis of variant or novel phenotypes associated with endocrine conditions and their implications for patient care. We are currently investigating novel mechanisms of adrenal and reproductive biology in humans as part of a Wellcome Trust Senior Fellowship and novel genetic aspects of testis development as part of the European Union (FP7) Consortium, EuroDSD.

Research Activities

Steroidogenic factor-1 (NR5A1)/ Adrenal and Reproductive biology

Education Description

Steering Committee, ESPE Science School;
Annual Meeting Steering Committee, The Endocrine Society (2006-10);
Steering Committee, ESPE Summer School (2005-09).

UCL Collaborators

External Collaborators

Publications

    2013

    • Williams CE, Nakhal RS, Achermann JC, Creighton SM (2013). Persistent unexplained congenital clitoromegaly in females born extremely prematurely.. J Pediatr Urol, 9(6 Pt A), 962 - 965. doi:10.1016/j.jpurol.2013.03.001
    • Wu JY, McGown IN, Lin L, Achermann JC, Harris M, Cowley DM, Aftimos S, Neville KA, Choong CS, Cotterill AM (2013). A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.. Clin Endocrinol (Oxf), 78(4), 545 - 550. doi:10.1111/cen.12012
    • Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I (2013). Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.. J Pediatr Urol, 9(2), 139 - 144. doi:10.1016/j.jpurol.2011.12.012

    2012

    • El-Khairi R, Parnaik R, Duncan AJ, Lin L, Gerrelli D, Dattani MT, Conway GS, Achermann JC (2012). Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.. Mol Cell Endocrinol, 351(2), 264 - 268. doi:10.1016/j.mce.2011.12.016
    • Charmandari E, Achermann JC, Carel JC, Soder O, Chrousos GP (2012). Stress response and child health.. Sci Signal, 5(248), mr1 - . doi:10.1126/scisignal.2003595
    • El-Khairi R, Achermann JC (2012). Steroidogenic factor-1 and human disease.. Semin Reprod Med, 30(5), 374 - 381. doi:10.1055/s-0032-1324720
    • Tantawy S, Lin L, Akkurt I, Borck G, Klingmüller D, Hauffa BP, Krude H, Biebermann H, Achermann JC, Köhler B (2012). Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.. Eur J Endocrinol, 167(1), 125 - 130. doi:10.1530/EJE-11-0944
    • Lescai F, Osinska J, Brooks T, Hubank M, Stupka E, Bacchelli C, Chanudet E, Beales P, Bonfiglio S, Waters A, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Hussain K, Sowden J, Kinsler V, Sisodiya SM, Kasperavičiute D, Hardy J, Houlden H, Wood N, Sheerin U, Williams J, Harold D, Kelsell D, Vulliamy T, Tonini GP, Mackay D (2012). Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes. PLoS ONE, 7(12), - . doi:10.1371/journal.pone.0051292
    • Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E (2012). Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.. Nat Genet, 44(7), 788 - 792. doi:10.1038/ng.2275
    • Padidela R, Bryan SM, Abu-Amero S, Hudson-Davies RE, Achermann JC, Moore GE, Hindmarsh PC (2012). The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight.. Clin Endocrinol (Oxf), 76(2), 236 - 240. doi:10.1111/j.1365-2265.2011.04207.x

    2011

    • Achermann JC (2011). SF-1 and DAX-1 in human disease.
    • Ferraz-de-Souza B, Hudson-Davies RE, Lin L, Parnaik R, Hubank M, Dattani MT, Achermann JC (2011). Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.. J Clin Endocrinol Metab, 96(4), E663 - E668. doi:10.1210/jc.2010-2021
    • Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC (2011). Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.. PLoS One, 6(1), e16366 - . doi:10.1371/journal.pone.0016366
    • Achermann JC, Jameson JL (2011). Disorders of sex development. In Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson JL, Loscalzo J (Ed.), Harrison's principles of internal medicine (pp. 3046 - 3055). : McGraw-Hill.
    • Ferraz-de-Souza B, Lin L, Achermann JC (2011). Steroidogenic factor-1 (SF-1, NR5A1) and human disease.. Mol Cell Endocrinol, 336(1-2), 198 - 205. doi:10.1016/j.mce.2010.11.006
    • Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S (2011). Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.. Hum Reprod, 26(3), 724 - 728. doi:10.1093/humrep/deq372
    • Ferraz-de-Souza B, Lin L, Shah S, Jina N, Hubank M, Dattani MT, Achermann JC (2011). ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.. FASEB J, 25(4), 1166 - 1175. doi:10.1096/fj.10-170522
    • El-Khairi R, Martinez-Aguayo A, Ferraz-de-Souza B, Lin L, Achermann JC (2011). Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.. Endocr Dev, 20, 38 - 46. doi:10.1159/000321213
    • Achermann JC, Eugster EA, Shulman DI (2011). Ambiguous genitalia.. J Clin Endocrinol Metab, 96(3), 33A - 34A.
    • Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, Elford S, Hughes IA, Izatt L, Krone N, Miles HL, O'Toole S, Perry L, Sanders C, Simmonds M, Wallace AM, Watt A, Willis D (2011). UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.. Clin Endocrinol (Oxf), 75(1), 12 - 26. doi:10.1111/j.1365-2265.2011.04076.x
    • Achermann JC, Hughes IA (2011). Disorders of sex development. In Melmed S, Polonsky KS, Larsen PR, Kronenberg HM (Ed.), William's textbook of endocrinology (pp. 868 - 934). : W B Saunders Co.
    • Martinez-Aguayo A, Dattani MT, Achermann JC (2011). Gonadotropin hormones: disorders. In (Ed.), Encyclopaedia of life sciences (pp. a0006089 - ). : John Wiley & Sons. doi:10.1002/9780470015902.a0006089

    2010

    • Guclu M, Lin L, Erturk E, Achermann JC, Cangul H (2010). Puberty, stress, and sudden death.. Lancet, 376(9751), 1512 - . doi:10.1016/S0140-6736(10)61153-1
    • Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K (2010). Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.. Am J Hum Genet, 87(4), 505 - 512. doi:10.1016/j.ajhg.2010.09.009
    • Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K (2010). New technologies for the identification of novel genetic markers of disorders of sex development (DSD).. Sex Dev, 4(4-5), 213 - 224. doi:10.1159/000314917
    • Achermann JC, Jameson JL (2010). Disorders of sex development. In (Ed.), Harrison's endocrinology (pp. 144 - 155). : McGraw-Hill.
    • Köhler B, Achermann JC (2010). Update--steroidogenic factor 1 (SF-1, NR5A1).. Minerva Endocrinol, 35(2), 73 - 86.
    • Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker JM, Achermann JC, Miller WL (2010). Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).. J Clin Endocrinol Metab, 95(7), 3352 - 3359. doi:10.1210/jc.2010-0437
    • Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC (2010). Holistic management of DSD.. Best Pract Res Clin Endocrinol Metab, 24(2), 335 - 354. doi:10.1016/j.beem.2010.01.006

    2009

    • Ferraz-de-Souza B, Lin L, Achermann JC (2009). Adrenals. In Carel JC, Hochberg Z (Ed.), Yearbook of pediatric endocrinology 2009 (pp. 93 - 110). : Karger.
    • Kohler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, Rossi R, Hiort O, Gruters A, Achermann JC (2009). The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. European Journal of Endocrinology, 161(2), 237 - 242.
    • Lourenço* D, Brauner* R, Lin* L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A (2009). Mutations in NR5A1 associated with ovarian insufficiency.. N Engl J Med, 360(12), 1200 - 1210. doi:10.1056/NEJMoa0806228
    • Lin L, Achermann JC (2009). Disorders of sex development. In Kehoe S, Chitty L, Homfray T (Ed.), Reproductive genetics (pp. 15 - 33). : RCOG press.
    • Ferraz-de-Souza B, Martin F, Mallet D, Hudson-Davies RE, Cogram P, Lin L, Gerrelli D, Beuschlein F, Morel Y, Huebner A, Achermann JC (2009). CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.. J Clin Endocrinol Metab, 94(2), 678 - 683. doi:10.1210/jc.2008-1064
    • Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nurnberg G, Nurnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJL (2009). Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency. Journal of Clinical Endocrinology and Metabolism, 94(10), 3865 - 3871.

    2008

    • Fluck CE, Achermann JC, Miller WL (2008). Disorders of the adrenal cortex.. In Sperling MA (Ed.), Pediatric endocrinology (pp. 444 - 511). : Elsevier.
    • Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT (2008). SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab, 93(5), 1865 - 1873. doi:10.1210/jc.2007-2337
    • Achermann JC, Jameson JL (2008). Disorders of sex development.. In Fauci AS, Braunwald E, Kasper DL, Hauser SL, Jameson JL, Loscalzo J (Ed.), Harrison’s principles of internal medicine (pp. 2339 - 2346). : McGraw-Hill.
    • Kim CJ, Lin L, Huang NW, Quigley CA, AvRuskin TW, Achermann JC, Miller WL (2008). Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. Journal of Clinical Endocrinology and Metabolism, 93(3), 696 - 702.
    • Shaikh MG, Boyes L, Kingston H, Collins R, Besley GTN, Padmakumar B, Ismayl O, Hughes I, Hall CM, Hellerud C, Achermann JC, Clayton PE (2008). Skewed X-inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. Journal of Medical Genetics, 45(9), e1 - .
    • Ferraz-de-Souza B, Achermann JC (2008). Disorders of adrenal development.. Endocr Dev, 13, 19 - 32. doi:10.1159/000134753
    • Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schroder V, Biebermann H, Schnabel D, Gruters A, Achermann JC (2008). Five novel mutations in steroidogenic factor-1 (SF1, NR5A1) in 46, XY patients with severe underandrogenization but without adrenal insufficiency. Human Mutation, 29, 59 - 64. doi:10.1002/humu.20588
    • Lin L, Achermann JC (2008). Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.. Sex Dev, 2(4-5), 200 - 209. doi:10.1159/000152036
    • Ferraz-de-Souza B, Lin L, Achermann JC (2008). Adrenals. In Carel JC, Hochberg Z (Ed.), Yearbook of pediatric endocrinology 2008 (pp. 95 - 108). : Karger.
    • Achermann JC, Hughes IA (2008). Disorders of sex development.. In Kronenberg HM, Melmed S, Polonsky KS, Larsen PR (Ed.), William's textbook of endocrinology (pp. 783 - 848). : Elsevier.

    2007

    • Ahmad I, Paterson WF, Lin L, Adlard P, Duncan P, Tolmie J, Achermann JC, Donaldson MD (2007). A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Hormone Research, 68(1), 32 - 37.
    • Lin L, Ercan O, Raza J, Burren CP, Creighton SM, Auchus RJ, Dattani MT, Achermann JC (2007). Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab, 92(3), 982 - 990. doi:10.1210/jc.2006-1181
    • Ferraz-de-Souza B, Lin L, Woodruff TK, Achermann JC (2007). Reproductive endocrinology. In Carel JC, Hochberg Z (Ed.), Yearbook of pediatric endocrinology 2007 (pp. 71 - 85). : Karger.
    • Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Leger J, Achermann JC, Sultan C (2007). Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Hum.Reprod., 22(12), 3255 - 3261.
    • Ferraz-de-Souza B, Achermann JC (2007). Endocrinology of Hypospadias. Dialogues in Pediatric Urology, 28(4), 6 - 8.
    • Lin L, Ferraz-de-Souza B, Achermann JC (2007). Genetic disorders involving adrenal development. Endocr.Dev., 11, 36 - 46.
    • Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJ, Dattani MT, Achermann JC (2007). Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf), 66(2), 205 - 210. doi:10.1111/j.1365-2265.2006.02709.x
    • Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O (2007). We used to call them hermaphrodites. Genet Med, 9(2), 65 - 66.
    • Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC (2007). Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab, 92(3), 991 - 999. doi:10.1210/jc.2006-1672

    2006

    • de Souza BF, Lin L, Achermann JC (2006). Steroidogenic Factor-1 (SF-1) and its Relevance to Pediatric Endocrinology. Pediatr Endocrinol Rev, 3(4), 359 - 364.
    • Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP (2006). A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency. Journal of Clinical Endocrinology and Metabolism, 91(6), 2428 - 2431.
    • Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT (2006). Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest, 116(9), 2442 - 2455. doi:10.1172/JCI28658
    • Lin L, Conway GS, Hill NR, Dattani MT, Hindmarsh PC, Achermann JC (2006). A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinol Metab, 91(12), 5117 - 5121. doi:10.1210/jc.2006-0807
    • Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC (2006). Non-classic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. Journal of Clinical Endocrinology and Metabolism, 91(12), 4781 - 4785.
    • Lee PA, Houk CP, Ahmed SF, Hughes IA, Intersex ICC (2006). Consensus statement on management of intersex disorders. PEDIATRICS, 118(2), E488 - E500. doi:10.1524/peds.2006-0738
    • Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC (2006). Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) in children and adults with primary adrenal failure: ten years' experience. Journal of Clinical Endocrinology and Metabolism, 91(8), 3048 - 3054.
    • Cameron FG, Johnston LB, Cowell CT, Achermann JC (2006). Highlights of the 44th Meeting of the European Society for Paediatric Endocrinology (ESPE). Highlights, 14(5), 1 - 32.
    • Houk CP, Hughes IA, Ahmed SF, Lee PA (2006). Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics, 118(2), 753 - 757.
    • Lee PA, Houk CP, Ahmed SF, Hughes IA (2006). Consensus statement on management of intersex disorders: International Consensus Conference on Intersex.. Pediatrics, 118(2), e488 - 500.
    • Hughes IA, Houk C, Ahmed SF, Lee PA (2006). Consensus statement on management of intersex disorders. Arch Dis Child, 91(7), 554 - 563.
    • Achermann JC, Jameson JL (2006). Disorders of sexual differentiation.. In Jameson JL (Ed.), Harrison’s endocrinology (pp. 161 - 172). : McGraw-Hill.
    • Ferraz-de-Souza B, Woodruff TK, Achermann JC (2006). Reproductive Endocrinology. In Carel JC, Hochberg Z (Ed.), Yearbook of pediatric endocrinology 2006 (pp. 87 - 101). : Karger.
    • Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Leconoitre C, McCabe ER, Hammer GD, Keegan CE (2006). IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene.. Molecular Genetics and Metabolism, 88(1), 66 - 70.

    2005

    • Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D (2005). Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. Journal of Clinical Endocrinology and Metabolism, 90(1), 538 - 541.
    • Rose S, Cameron FG, Achermann JC (2005). Highlights of the 7th Joint Meeting of the Endocrine Societies.. Highlights, 13(5), 1 - 32.
    • Achermann JC (2005). The role of SF1/DAX1 in adrenal and reproductive function.. Ann Endocrinol, 66(3), 233 - 239.
    • Achermann JC (2005). Development of the reproductive systems.. In Brook CG, Clayton PE, Brown R (Ed.), Clinical pediatric endocrinology (pp. 153 - 170). : Blackwell.
    • Lin L, Woodruff TK, Achermann JC (2005). Reproductive Endocrinology. In Carel JC, Hochberg Z (Ed.), Yearbook of pediatric endocrinology 2005 (pp. 89 - 106). : Karger.
    • Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S, Aparicio SA (2005). Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.. J Clin Endocrinol Metab, 90(3), 1849 - 1855. doi:10.1210/jc.2004-1418
    • Fluck CE, Maret A, Mallet D, Portrat-Doyen S, Achermann JC, Leheup B, Theintz GE, Mullis PE, Morel Y (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia. J Clin Endocr Metab, 90(9), 5304 - 5308. doi:10.1210/jc.205-0847
    • Simsek E, Ozdemir I, Lin L, Achermann JC (2005). Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty. Fertility and Sterility, 83(5), 1548 - 1551.

    2004

    • Achermann JC (2004). Delayed Puberty. In Eugster EA, Pescovitz OR (Ed.), Paediatric Endocrinology: Mechanisms, Manifestations & Management (pp. 334 - 348). : Lippincott,Williams and Wilkins.
    • Bannerjee I, Achermann JC (2004). Highlights of the 43nd Meeting of the European Society for Paediatric Endocrinology (ESPE).. Highlights, 12(5), 4 - 26.
    • Lin L, Achermann JC (2004). Inherited adrenal hypoplasia: not just for kids!. Clin Endocrinol (Oxf), 60(5), 529 - 537.
    • Lin L, Achermann JC (2004). The adrenal.. Horm Res, 62(3), 22 - 29.
    • Lin L, Woodruff TK, Achermann JC (2004). Gonadotropins, Gonads: Physiology & Disease. In Carel JC, Hochberg Z (Ed.), Yearbook of pediatric endocrinology 2004 (pp. 143 - 156). : Elsevier.
    • Achermann JC (2004). The Orphan Nuclear Receptor Superfamily: key targets for environmental modulation?. Highlights, 12(1), 9 - 11.
    • Achermann JC, Jameson JL (2004). Disorders of Sexual Differentiation. In Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL (Ed.), Harrison's Principles of Internal Medicine (pp. 2214 - 2220). : McGraw-Hill.
    • Achermann JC (2004). Do testosterone and GH have synergistic effects on metabolism during puberty?. International Growth Monitor, 14(2), 4 - 6.

    2003

    • Achermann JC, Jameson JL (2003). Human disorders caused by nuclear receptor gene mutations. Pure and Applied Chemistry, 75(11-12), 1785 - 1796.
    • Creighton S, Ransley P, Duffy P, Wilcox D, Mushtaq I, Cuckow P, Woodhouse C, Minto C, Crouch N, Stanhope R, Hughes I, Dattani M, Hindmarsh P, Brain C, Achermann J, Conway G, Liao LM, Barnicoat A, Perry L (2003). Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.. J Clin Endocrinol Metab, 88(7), 3455 - . doi:10.1210/jc.2003-030127
    • Allen LA, Achermann JC, Pakarinen P, Kotlar TJ, Huhtaniemi IT, Jameson JL, Cheetham TD, Ball SG (2003). A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. Human Reproduction, 18(2), 251 - 256.
    • Achermann JC (2003). Highlights of the 1st NovoNordisk Meeting on Adult consequences of childhood endocrine disorders - promoting paediatric and adult interaction. Highlights, , 1 - 16.
    • Achermann JC, Jameson JL (2003). Testis determination. Topical Endocrinology, 22, 10 - 14.
    • Jameson JL, Achermann JC, Ozisik G, Meeks JJ (2003). Battle of the sexes: new insights into genetic pathways of gonadal development. Transactions of the American Clinical and Climatological Association, 114, 51 - 63.
    • Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A, Weiss J, Beck-Peccoz P, Jameson JL (2003). An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism, 88(1), 417 - 423.
    • Ozisik G, Achermann JC, Meeks JJ, Jameson JL (2003). SF1 in the development of the adrenal gland and gonads. Horm Res, 59 Sup, 94 - 98.
    • Creighton S, Ransley P, Duffy P, Wilcox D, Mushtaq I, Cuckow P, Woodhouse C, Minto C, Crouch N, Stanhope R, Hughes I, Dattani M, Hindmarsh P, Brain C, Achermann J, Conway G, Liao LM, Barnicoat A, Perry L (2003). Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab, 88(7), 3455 - .
    • Achermann JC, Jameson JL (2003). Gonadotropin hormones: disorders. In Cooper DN (Ed.), Nature encyclopaedia of the human genome (pp. 122 - 127). : Nature Publishing Group.
    • Achermann JC (2003). Highlights of the 42nd Meeting of the European Society for Paediatric Endocrinology (ESPE).. Highlights, 11(5), 1 - 18.

    2002

    • Achermann JC, Ozisik G, Ito M, Orun OA, Harmanci K, Gurukan B, Jameson JL (2002). Gonadal determination and adrenal development are regulated by the orphan nuclear receptor, steroidogenic factor-1 (SF-1), in a dose-dependent manner. Journal of Clinical Endocrinology and Metabolism, 87(4), 1829 - 1833. doi:10.1210/jc.87.4.1829
    • Achermann JC, Ozisik G, Meeks JJ, Jameson JL (2002). Genetic causes of human reproductive disease.. J Clin Endocrinol Metab, 87(6), 2447 - 2454. doi:10.1210/jcem.87.6.8622
    • Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, Pralong FP (2002). Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. Journal of Clinical Endocrinology and Metabolism, 87, 4094 - 4100.
    • Ozisik G, Achermann JC, Jameson JL (2002). The role of SF1 in adrenal and reproductive function: Insight from naturally-occuring mutations in humans. Mol Genet Metab, 76, 85 - 91.
    • Ozisik G, Achermann JC, Meeks JJ, Jameson JL (2002). DAX1 and SF1 mutations provide insight into sexual differentiation. In Rommerts FFG, Teerds KJ (Ed.), Testicular Tangrams (pp. 151 - 171). : Springer-Verlag Berlin.
    • Achermann JC (2002). Highlights of the 41st Meeting of the European Society for Paediatric Endocrinology. Highlights, 4, 1 - 28.
    • Mantovani G, Ozisik G, Achermann JC, Romoli R, Borretta G, Persani L, Spada A, Jameson JL, Beck-Peccoz P (2002). Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab, 87(1), 44 - 48.

    2001

    • Achermann JC (2001). Highlights of the 6th Joint Meeting of the European Society for Paediatric Endocrinology (ESPE) & Lawson Wilkins Pediatric Endocrinology Society (LWPES).. Highlights, 9(3), 1 - 16.
    • Achermann JC (2001). The molecular genetics of hypogonadotropic hypogonadism. Clin Pediatr Endocrinol, 10(16), 21 - 30.
    • Achermann JC, Silverman BL (2001). Dehydroepiandrosterone replacement for patients with adrenal insufficiency.. Lancet, 357(9266), 1381 - 1382.
    • Achermann JC, Meeks JJ, Jameson JL (2001). Phenotypic spectrum of mutations in DAX-1 and SF-1.. Mol Cell Endocrinol, 185(1-2), 17 - 25.
    • Wiltshire E, Couper J, Rhodda C, Jameson JL, Achermann JC (2001). Variable presentation of X-linked adrenal hypoplasia congenita.. Journal of Pediatric Endocrinology and Metabolism, 14(8), 1093 - 1096.
    • Achermann JC, Meeks JJ, Jeffs B, Das U, Clayton PE, Brook CGD, Jameson JL (2001). Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia.. Molecular Genetics and Metabolism, 73(4), 354 - 357.
    • Achermann JC, Jameson JL (2001). Advances in the molecular genetics of hypogonadotropic hypogonadism. J Ped Endocrinol Metab, 14(1), 3 - 15.
    • Achermann JC, Weiss J, Lee EJ, Jameson JL (2001). Inherited disorders of the gonadotropin hormones.. Mol Cell Endocrinol, 179(1-2), 89 - 96.
    • Wang ZJ, Jeffs B, Ito M, Achermann JC, Yu RN, Hales DB, Jameson JL (2001). Aromatase (Cyp19) expression is upregulated by targeted disruption of Dax1.. Proceedings of the National Academy of Sciences of the United States of America, 98(14), 7988 - 7993. doi:10.1073/pnas.141543298
    • Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL (2001). Missense mutations cluster within the carboxy-terminal region of DAX-1 and impair transcriptional repression.. Journal of Clinical Endocrinology and Metabolism, 86(7), 3171 - 3175.

    2000

    • Achermann JC, Meeks JJ, Jameson JL (2000). X-linked adrenal hypoplasia congenita and DAX-1.. The Endocrinologist, 10, 289 - 299.
    • Achermann JC, Jeffs B, Jameson JL (2000). SF-1 and DAX-1 in adrenal development and pathology.. In Hughes IA, Clark AJL (Ed.), Adrenal disease in childhood: clinical and molecular aspects (pp. 1 - 23). : Karger.
    • Ito* M, Achermann* JC, Jameson JL (2000). A naturally-occurring steroidogenic factor-1 (SF-1) mutation exhibits differential binding and activation of target genes.. Journal of Biological Chemistry, 275(41), 31708 - 31714.
    • Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, ChristinMaitre S, Ito M, Jameson JL, Bouchard P (2000). A novel mutation in DAX1 causes delayed onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.. Journal of Clinical Investigation, 105(3), 321 - 328.
    • Achermann JC, Brook CG, Hindmarsh PC (2000). The GH response to low-dose bolus growth hormone-releasing hormone (GHRH(1-29)NH2) is attenuated in patients with longstanding post- irradiation GH insufficiency. European Journal of Endocrinology, 142(4), 359 - 364.
    • Achermann JC (2000). Highlights of the 39th Meeting of the European Society for Paediatric Endocrinology (ESPE).. Highlights, 8, 1 - 13.
    • Achermann JC, Silverman BL, Habiby RL, Jameson JL (2000). Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.. The Journal of Pediatrics, 137(6), 878 - 881.

    1999

    • Achermann JC, Hindmarsh PC, Robinson ICAF, Matthews DR, Brook CGD (1999). The relative roles of continuous growth hormone-releasing hormone (GHRH(1-29)NH2) and intermittent somatostatin (1-14) (SS) in growth hormone (GH) pulse generation: studies in normal and post cranial irradiated individuals.. Clinical Endocrinology, 51(5), 575 - 586.
    • Achermann JC, Jameson JL (1999). Fertility and infertility: genetic contributions from the hypothalamic-pituitary-gonadal axis.. Mol Endocrinol, 13(6), 812 - 818.
    • Achermann JC, Brook CG, Robinson IC, Matthews DR, Hindmarsh PC (1999). Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children. Clinical Endocrinology, 50(3), 301 - 308.
    • Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF (1999). X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.. J Clin Endocrinol Metabol, 84(12), 4501 - 4509.
    • Reutens* AT, Achermann* JC, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL (1999). Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism, 84(2), 504 - 511.
    • Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF, Jr L, L C J, J L (1999). Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. Journal of Clinical Endocrinology and Metabolism, 84(12), 4497 - 4500.
    • Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL (1999). A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nature Genetics, 22, 125 - 126.

    1998

    • Yu RN, Achermann JC, Ito M, Jameson JL (1998). The role of DAX-1 in reproduction.. Trends Endocrinol and Metabol, 9, 169 - 175.
    • Achermann JC, Hamdani K, Hindmarsh PC, Brook CG (1998). Birth weight influences the initial response to growth hormone treatment in growth hormone-insufficient children. Pediatrics, 102(2), 342 - 345.
    • Achermann JC (1998). The pathophysiology of post-irradiation growth hormone insufficiency.
    • Achermann JC, Hindmarsh PC, Brook CGD (1998). The relationship between the growth hormone (GH) and insulin-like growth factor (IGF) axis in long-term survivors of childhood brain tumours.. Clinical Endocrinology, 49(5), 639 - 645.

    1991

    • Achermann JC, Dineen E, Stevenson-Hinde J (1991). Clearing up at 2.5 years. British Journal of Developmental Psychology, 9, 365 - 376.