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John Achermann

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Chemicals & Drugs

Physiology

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Procedures

DNA Mutational Analysis

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Co-Publications
Name
21
Jameson, Larry
9
Lin, Lin
8
Ozisik, Gokhan
7
Ito, Masafumi
6
Hindmarsh, Peter
6
Brook, Charles
6
Meeks, Joshua
5
Dattani, Mehul
5
Ferraz-de-Souza, Bruno
4
Habiby, RL
3
Gu, Wen-Xia
3
Robinson, Iain
3
Silverman, BL
2
Spada, Anna
2
Weiss, Jeffrey

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Publications

TOP 3
Köhler Birgit; Lin Lin; Mazen Inas; Cetindag Cigdem; Biebermann Heike; Akkurt Ilker; Rossi Rainer; Hiort Olaf; Grüters Annette; Achermann John C
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.
Ferraz-de-Souza Bruno; Martin Franziska; Mallet Delphine; Hudson-Davies Rebecca E; Cogram Patricia; Lin Lin; Gerrelli Dianne; Beuschlein Felix; Morel Yves; Huebner Angela; Achermann John C
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.
Kim Chan Jong; Lin Lin; Huang Ningwu; Quigley Charmian A; AvRuskin Theodore W; Achermann John C; Miller Walter L
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

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All Publications

2009: Köhler Birgit; Lin Lin; Mazen Inas; Cetindag Cigdem; Biebermann Heike; Akkurt Ilker; Rossi Rainer; Hiort Olaf; Grüters Annette; Achermann John C
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 / European Federation of Endocrine Societies 2009;161(2):237-42.
2009: Ferraz-de-Souza Bruno; Martin Franziska; Mallet Delphine; Hudson-Davies Rebecca E; Cogram Patricia; Lin Lin; Gerrelli Dianne; Beuschlein Felix; Morel Yves; Huebner Angela; Achermann John C
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.
The Journal of clinical endocrinology and metabolism 2009;94(2):678-83.
2008: Kim Chan Jong; Lin Lin; Huang Ningwu; Quigley Charmian A; AvRuskin Theodore W; Achermann John C; Miller Walter L
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
The Journal of clinical endocrinology and metabolism 2008;93(3):696-702.
2008: Köhler Birgit; Lin Lin; Ferraz-de-Souza Bruno; Wieacker Peter; Heidemann Peter; Schröder Vanessa; Biebermann Heike; Schnabel Dirk; Grüters Annette; Achermann John C
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Human mutation 2008;29(1):59-64.
2008: Ferraz-de-Souza Bruno; Achermann John C
Disorders of adrenal development.
Endocrine development 2008;13():19-32.
2007: Philibert Pascal; Zenaty Delphine; Lin Lin; Soskin Sylvie; Audran Françoise; Léger Juliane; Achermann John C; Sultan Charles
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Human reproduction (Oxford, England) 2007;22(12):3255-61.
2007: Lin Lin; Philibert Pascal; Ferraz-de-Souza Bruno; Kelberman Daniel; Homfray Tessa; Albanese Assunta; Molini Veruska; Sebire Neil J; Einaudi Silvia; Conway Gerard S; Hughes Ieuan A; Jameson J Larry; Sultan Charles; Dattani Mehul T; Achermann John C
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
The Journal of clinical endocrinology and metabolism 2007;92(3):991-9.
2007: Lin Lin; Ercan Oya; Raza Jamal; Burren Christine P; Creighton Sarah M; Auchus Richard J; Dattani Mehul T; Achermann John C
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
The Journal of clinical endocrinology and metabolism 2007;92(3):982-90.
2007: Lin Lin; Hindmarsh Peter C; Metherell Louise A; Alzyoud Mahmoud; Al-Ali Maryam; Brain Caroline E; Clark Adrian J L; Dattani Mehul T; Achermann John C
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Clinical endocrinology 2007;66(2):205-10.
2007: Lin Lin; Ferraz-de-Souza Bruno; Achermann John C
Genetic disorders involving adrenal development.
Endocrine development 2007;11():36-46.
2006: Lin Lin; Conway Gerard S; Hill Nathan R; Dattani Mehul T; Hindmarsh Peter C; Achermann John C
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
The Journal of clinical endocrinology and metabolism 2006;91(12):5117-21.
2006: Baker Bo Y; Lin Lin; Kim Chan J; Raza Jamal; Smith Claire P; Miller Walter L; Achermann John C
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
The Journal of clinical endocrinology and metabolism 2006;91(12):4781-5.
2006: Kelberman Daniel; Rizzoti Karine; Avilion Ariel; Bitner-Glindzicz Maria; Cianfarani Stefano; Collins Julie; Chong W Kling; Kirk Jeremy M W; Achermann John C; Ross Richard; Carmignac Danielle; Lovell-Badge Robin; Robinson Iain C A F; Dattani Mehul T
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
The Journal of clinical investigation 2006;116(9):2442-55.
2006: Lin Lin; Gu Wen-Xia; Ozisik Gokhan; To Wing S; Owen Catherine J; Jameson J Larry; Achermann John C
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
The Journal of clinical endocrinology and metabolism 2006;91(8):3048-54.
2006: de-Souza Bruno Ferraz; Lin Lin; Achermann John C
Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology.
Pediatric endocrinology reviews : PER 2006;3(4):359-64.
2006: 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
A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
The Journal of clinical endocrinology and metabolism 2006;91(6):2428-31.
2003: Allen Linda A; Achermann John C; Pakarinen Pirjo; Kotlar Thomas J; Huhtaniemi Ilpo T; Jameson J Larry; Cheetham Tim D; Ball Stephen G
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
Human reproduction (Oxford, England) 2003;18(2):251-6.
2003: Ozisik Gokhan; Mantovani Giovanna; Achermann John C; Persani Luca; Spada Anna; Weiss Jeffrey; Beck-Peccoz Paolo; Jameson J Larry
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
The Journal of clinical endocrinology and metabolism 2003;88(1):417-23.
2003: Jameson J Larry; Achermann John C; Ozisik Gokhan; Meeks Joshua J
Battle of the sexes: new insights into genetic pathways of gonadal development.
Transactions of the American Clinical and Climatological Association 2003;114():51-63; discussion 64-5.
2003: Ozisik Gokhan; Achermann John C; Meeks Joshua J; Jameson J Larry
SF1 in the development of the adrenal gland and gonads.
Hormone research 2003;59 Suppl 1():94-8.
2002: Ozisik Gokhan; Achermann John C; Jameson J Larry
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
Molecular genetics and metabolism 2002;76(2):85-91.
2002: Achermann John C; Ozisik Gokhan; Meeks Joshua J; Jameson J Larry
Genetic causes of human reproductive disease.
The Journal of clinical endocrinology and metabolism 2002;87(6):2447-54.
2002: Achermann John C; Ozisik Gokhan; Ito Masafumi; Orun Utku A; Harmanci Koray; Gurakan Berkan; Jameson J Larry
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
The Journal of clinical endocrinology and metabolism 2002;87(4):1829-33.
2002: Mantovani Giovanna; Ozisik Gokhan; Achermann John C; Romoli Roberto; Borretta Giorgio; Persani Luca; Spada Anna; Jameson J Larry; Beck-Peccoz Paolo
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
The Journal of clinical endocrinology and metabolism 2002;87(1):44-8.
2001: Achermann J C; Meeks J J; Jameson J L
Phenotypic spectrum of mutations in DAX-1 and SF-1.
Molecular and cellular endocrinology 2001;185(1-2):17-25.
2001: Achermann J C; Meeks J J; Jeffs B; Das U; Clayton P E; Brook C G; Jameson J L
Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.
Molecular genetics and metabolism 2001;73(4):354-7.
2001: Achermann J C; Ito M; Silverman B L; Habiby R L; Pang S; Rosler A; Jameson J L
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
The Journal of clinical endocrinology and metabolism 2001;86(7):3171-5.
2001: Wang Z J; Jeffs B; Ito M; Achermann J C; Yu R N; Hales D B; Jameson J L
Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(14):7988-93.
2001: Achermann J C; Weiss J; Lee E J; Jameson J L
Inherited disorders of the gonadotropin hormones.
Molecular and cellular endocrinology 2001;179(1-2):89-96.
2001: Achermann J C; Silverman B L
Dehydroepiandrosterone replacement for patients with adrenal insufficiency.
Lancet 2001;357(9266):1381-2.
2001: Achermann J C; Jameson J L
Advances in the molecular genetics of hypogonadotropic hypogonadism.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14(1):3-15.
2000: Achermann J C; Silverman B L; Habiby R L; Jameson J L
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
The Journal of pediatrics 2000;137(6):878-81.
2000: Ito M; Achermann J C; Jameson J L
A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes.
The Journal of biological chemistry 2000;275(41):31708-14.
2000: Achermann J C; Brook C G; Hindmarsh P C
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 / European Federation of Endocrine Societies 2000;142(4):359-64.
1999: Seminara S B; Achermann J C; Genel M; Jameson J L; Crowley W F
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
The Journal of clinical endocrinology and metabolism 1999;84(12):4501-9.
1999: Achermann J C; Gu W X; Kotlar T J; Meeks J J; Sabacan L P; Seminara S B; Habiby R L; Hindmarsh P C; Bick D P; Sherins R J; Crowley W F; Layman L C; Jameson J L
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
The Journal of clinical endocrinology and metabolism 1999;84(12):4497-500.
1999: Achermann J C; Hindmarsh P C; Robinson I C; Matthews D R; Brook C G
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 1999;51(5):575-85.
1999: Achermann J C; Jameson J L
Fertility and infertility: genetic contributions from the hypothalamic-pituitary-gonadal axis.
Molecular endocrinology (Baltimore, Md.) 1999;13(6):812-8.
1999: Achermann J C; Brook C G; Robinson I C; Matthews D R; Hindmarsh P C
Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children.
Clinical endocrinology 1999;50(3):301-8.
1999: Reutens A T; Achermann J C; Ito M; Ito M; Gu W X; Habiby R L; Donohoue P A; Pang S; Hindmarsh P C; Jameson J L
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
The Journal of clinical endocrinology and metabolism 1999;84(2):504-11.
1998: Achermann J C; Hindmarsh P C; Brook C G
The relationship between the growth hormone and insulin-like growth factor axis in long-term survivors of childhood brain tumours.
Clinical endocrinology 1998;49(5):639-45.
1998: Achermann J C; Hamdani K; Hindmarsh P C; Brook C G
Birth weight influences the initial response to growth hormone treatment in growth hormone-insufficient children.
Pediatrics 1998;102(2 Pt 1):342-5.
1998: Yu R N; Achermann J C; Ito M; Jameson J L
The Role of DAX-1 in Reproduction.
Trends in endocrinology and metabolism: TEM 1998;9(5):169-75.

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