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Results: 1-21 |
Results: 21
Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia
Authors: Achermann, JC Meeks, JJ Jeffs, B Das, U Clayton, PE Brook, CGD Jameson, JL
Citation: Jc. Achermann et al., Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia, MOL GEN MET, 73(4), 2001, pp. 354-357
Variable presentation of X-linked adrenal hypoplasia congenita
Authors: Wiltshire, E Couper, J Rodda, C Jameson, JL Achermann, JC
Citation: E. Wiltshire et al., Variable presentation of X-linked adrenal hypoplasia congenita, J PED END M, 14(8), 2001, pp. 1093-1096
Advances in the molecular genetics of hypogonadotropic hypogonadism
Authors: Achermann, JC Jameson, JL
Citation: Jc. Achermann et Jl. Jameson, Advances in the molecular genetics of hypogonadotropic hypogonadism, J PED END M, 14(1), 2001, pp. 3-15
Inherited disorders of the gonadotropin hormones
Authors: Achermann, JC Weiss, J Lee, EJ Jameson, JL
Citation: Jc. Achermann et al., Inherited disorders of the gonadotropin hormones, MOL C ENDOC, 179(1-2), 2001, pp. 89-96
Dehydroepiandrosterone replacement for patients with adrenal insufficiency
Authors: Achermann, JC Silverman, BL
Citation: Jc. Achermann et Bl. Silverman, Dehydroepiandrosterone replacement for patients with adrenal insufficiency, LANCET, 357(9266), 2001, pp. 1381-1382
Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1
Authors: Wang, ZJ Jeffs, B Ito, M Achermann, JC Yu, RN Hales, DB Jameson, JL
Citation: Zj. Wang et al., Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1, P NAS US, 98(14), 2001, pp. 7988-7993
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression
Authors: Achermann, JC Ito, M Silverman, BL Habiby, RL Pang, S Rosler, A Jameson, JL
Citation: Jc. Achermann et al., Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression, J CLIN END, 86(7), 2001, pp. 3171-3175
X-linked adrenal hypoplasia congenita and DAX-1
Authors: Achermann, JC Meeks, JJ Jameson, JL
Citation: Jc. Achermann et al., X-linked adrenal hypoplasia congenita and DAX-1, ENDOCRINOLO, 10(5), 2000, pp. 289-299
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
Authors: Achermann, JC Brook, CGD Hindmarsh, PC
Citation: Jc. Achermann et al., 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, EUR J ENDOC, 142(4), 2000, pp. 359-364
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1
Authors: Achermann, JC Silverman, BL Habiby, RL Jameson, JL
Citation: Jc. Achermann et al., Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1, J PEDIAT, 137(6), 2000, pp. 878-881
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
Authors: Tabarin, A Achermann, JC Recan, D Bex, V Bertagna, X Christin-Maitre, S Ito, M Jameson, JL Bouchard, P
Citation: A. Tabarin et al., A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism, J CLIN INV, 105(3), 2000, pp. 321-328
A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes
Authors: Ito, M Achermann, JC Jameson, JL
Citation: M. Ito et al., A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes, J BIOL CHEM, 275(41), 2000, pp. 31708-31714
SF-1 and DAX-1 in adrenal development and pathology
Authors: Achermann, JC Jeffs, B Jameson, JL
Citation: Jc. Achermann et al., SF-1 and DAX-1 in adrenal development and pathology, ENDOCR DEV, 2, 2000, pp. 1-23
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
Authors: Achermann, JC Ito, M Ito, M Hindmarsh, PC Jameson, JL
Citation: Jc. Achermann et al., A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans, NAT GENET, 22(2), 1999, pp. 125-126
Fertility and infertility: Genetic contributions from the hypothalamic-pituitary-gonadal axis
Authors: Achermann, JC Jameson, JL
Citation: Jc. Achermann et Jl. Jameson, Fertility and infertility: Genetic contributions from the hypothalamic-pituitary-gonadal axis, MOL ENDOCR, 13(6), 1999, pp. 812-818
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
Authors: Achermann, JC Hindmarsh, PC Robinson, ICAF Matthews, DR Brook, CGD
Citation: Jc. Achermann et al., 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, CLIN ENDOCR, 51(5), 1999, pp. 575-585
Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children
Authors: Achermann, JC Brook, CGD Robinson, ICAF Matthews, DR Hindmarsh, PC
Citation: Jc. Achermann et al., Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children, CLIN ENDOCR, 50(3), 1999, pp. 301-308
Clinical and functional effects of mutations in the DAX-1 gene in patientswith adrenal hypoplasia congenita
Authors: Reutens, AT Achermann, JC Ito, M Ito, M Gu, WX Habiby, RL Donohoue, PA Pang, SY Hindmarsh, PC Jameson, JL
Citation: At. Reutens et al., Clinical and functional effects of mutations in the DAX-1 gene in patientswith adrenal hypoplasia congenita, J CLIN END, 84(2), 1999, pp. 504-511
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadismor pubertal delay
Authors: Achermann, JC Gu, WX Kotlar, TJ Meeks, JJ Sabacan, LP Seminara, SB Habiby, RL Hindmarsh, PC Bick, DP Sherins, RJ Crowley, WF Layman, LC Jameson, JL
Citation: Jc. Achermann et al., Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadismor pubertal delay, J CLIN END, 84(12), 1999, pp. 4497-4500
X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females
Authors: Seiminara, SB Achermann, JC Genel, M Jameson, JL Crowley, WF
Citation: Sb. Seiminara et al., X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females, J CLIN END, 84(12), 1999, pp. 4501-4509
The relationship between the growth hormone and insulin-like growth factoraxis in long-term survivors of childhood brain tumours
Authors: Achermann, JC Hindmarsh, PC Brook, CGD
Citation: Jc. Achermann et al., The relationship between the growth hormone and insulin-like growth factoraxis in long-term survivors of childhood brain tumours, CLIN ENDOCR, 49(5), 1998, pp. 639-645
Risultati: 1-21 |