1-20 of 29
Authors: John C. Achermann
Journal Article
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency
The Journal of Clinical Endocrinology & Metabolism, dgaf124, https://doi.org/10.1210/clinem/dgaf124
Published: 25 February 2025
Journal Article
Characterization of Turner Syndrome-associated Diabetes Mellitus
The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 5, May 2025, Pages 1279–1286, https://doi.org/10.1210/clinem/dgae357
Published: 04 July 2024
Journal Article
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 1, January 2022, Pages e254–e263, https://doi.org/10.1210/clinem/dgab597
Published: 17 August 2021
Journal Article
Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 9, 1 September 2017, Pages 3349–3359, https://doi.org/10.1210/jc.2017-00763
Published: 21 June 2017
Journal Article
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 1, 1 January 2016, Pages 284–292, https://doi.org/10.1210/jc.2015-3250
Published: 01 January 2016
Journal Article
Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 4, 1 April 2011, Pages E663–E668, https://doi.org/10.1210/jc.2010-2021
Published: 01 April 2011
Journal Article
Órganos genitales ambiguos Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 3, 1 March 2011, Page 34A, https://doi.org/10.1210/jcem.96.3.zeg34a
Published: 01 March 2011
Journal Article
Ambiguous Genitalia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 3, 1 March 2011, Page 33A, https://doi.org/10.1210/jcem.96.3.zeg33a
Published: 01 March 2011
Journal Article
Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 7, 1 July 2010, Pages 3352–3359, https://doi.org/10.1210/jc.2010-0437
Published: 01 July 2010
Journal Article
Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 10, 1 October 2009, Pages 3865–3871, https://doi.org/10.1210/jc.2009-0467
Published: 01 October 2009
Journal Article
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 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 2, 1 February 2009, Pages 678–683, https://doi.org/10.1210/jc.2008-1064
Published: 01 February 2009
Journal Article
SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 5, 1 May 2008, Pages 1865–1873, https://doi.org/10.1210/jc.2007-2337
Published: 01 May 2008
Journal Article
Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 3, 1 March 2008, Pages 696–702, https://doi.org/10.1210/jc.2007-2330
Published: 01 March 2008
Journal Article
Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 3, 1 March 2007, Pages 991–999, https://doi.org/10.1210/jc.2006-1672
Published: 01 March 2007
Journal Article
Variable Phenotypes Associated with Aromatase (CYP19) Insufficiency in Humans Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 3, 1 March 2007, Pages 982–990, https://doi.org/10.1210/jc.2006-1181
Published: 01 March 2007
Journal Article
Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 12, 1 December 2006, Pages 4781–4785, https://doi.org/10.1210/jc.2006-1565
Published: 01 December 2006
Journal Article
A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 12, 1 December 2006, Pages 5117–5121, https://doi.org/10.1210/jc.2006-0807
Published: 01 December 2006
Journal Article
Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 8, 1 August 2006, Pages 3048–3054, https://doi.org/10.1210/jc.2006-0603
Published: 01 August 2006
Journal Article
A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 9, 1 September 2005, Pages 5304–5308, https://doi.org/10.1210/jc.2005-0874
Published: 01 September 2005
Journal Article
Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 1, 1 January 2005, Pages 538–541, https://doi.org/10.1210/jc.2004-1059
Published: 01 January 2005
