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Items: 1 to 20 of 105

1.

In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity.

Katharopoulos E, Sauter K, Pandey AV, Flück CE.

J Steroid Biochem Mol Biol. 2019 Jan 28. pii: S0960-0760(18)30588-0. doi: 10.1016/j.jsbmb.2019.01.017. [Epub ahead of print]

PMID:
30703436
2.

Management of Gonads in Adults with Androgen Insensitivity: An International Survey.

Tack LJW, Maris E, Looijenga LHJ, Hannema SE, Audi L, Köhler B, Holterhus PM, Riedl S, Wisniewski A, Flück CE, Davies JH, T Apos Sjoen G, Lucas-Herald AK, Evliyaoglu O, Krone N, Iotova V, Marginean O, Balsamo A, Verkauskas G, Weintrob N, Ellaithi M, Nordenström A, Verrijn Stuart A, Kluivers KB, Wolffenbuttel KP, Ahmed SF, Cools M.

Horm Res Paediatr. 2018;90(4):236-246. doi: 10.1159/000493645. Epub 2018 Oct 18.

PMID:
30336477
3.

Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites.

Dhayat NA, Marti N, Kollmann Z, Troendle A, Bally L, Escher G, Grössl M, Ackermann D, Ponte B, Pruijm M, Müller M, Vogt B, Birkhäuser MH, Bochud M, Flück CE; members of the SKIPOGH Study Group.

PLoS One. 2018 Oct 11;13(10):e0203903. doi: 10.1371/journal.pone.0203903. eCollection 2018.

4.

How high-resolution techniques enable reliable steroid identification and quantification.

Bileck A, Fluck CE, Dhayat N, Groessl M.

J Steroid Biochem Mol Biol. 2019 Feb;186:74-78. doi: 10.1016/j.jsbmb.2018.09.018. Epub 2018 Sep 27.

PMID:
30268410
5.

Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort.

Swerdlow AJ, Cooke R, Beckers D, Butler G, Carel JC, Cianfarani S, Clayton P, Coste J, Deodati A, Ecosse E, Hokken-Koelega ACS, Khan AJ, Kiess W, Kuehni CE, Flück CE, Pfaffle R, Sävendahl L, Sommer G, Thomas M, Tidblad A, Tollerfield S, Zandwijken GRJ.

J Clin Endocrinol Metab. 2019 Mar 1;104(3):658-664. doi: 10.1210/jc.2018-01133.

6.

Corrigendum to "Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis" [J. Steroid Biochem. Mol. Biol. 154 (2015) 226-236].

Dhayat NA, Frey AC, Frey BM, d'Uscio CH, Vogt B, Rousson V, Dick B, Flück CE.

J Steroid Biochem Mol Biol. 2018 Oct;183:238. doi: 10.1016/j.jsbmb.2018.08.005. Epub 2018 Aug 16. No abstract available.

PMID:
30121346
7.

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Camats N, Fernández-Cancio M, Audí L, Schaller A, Flück CE.

Eur J Hum Genet. 2018 Sep;26(9):1329-1338. doi: 10.1038/s41431-018-0202-7. Epub 2018 Jun 11.

PMID:
29891883
8.

Glucocorticoid metabolites in newborns: A marker for traffic noise related stress?

Cantuaria ML, Usemann J, Proietti E, Blanes-Vidal V, Dick B, Flück CE, Rüedi S, Héritier H, Wunderli JM, Latzin P, Frey U, Röösli M, Vienneau D; BILD study group.

Environ Int. 2018 Aug;117:319-326. doi: 10.1016/j.envint.2018.05.002. Epub 2018 May 17.

PMID:
29778832
9.

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.

Fernández-Cancio M, Camats N, Flück CE, Zalewski A, Dick B, Frey BM, Monné R, Torán N, Audí L, Pandey AV.

Pharmaceuticals (Basel). 2018 Apr 29;11(2). pii: E37. doi: 10.3390/ph11020037.

10.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

Martinez de LaPiscina I, de Mingo C, Riedl S, Rodriguez A, Pandey AV, Fernández-Cancio M, Camats N, Sinclair A, Castaño L, Audi L, Flück CE.

Front Endocrinol (Lausanne). 2018 Apr 4;9:142. doi: 10.3389/fendo.2018.00142. eCollection 2018.

11.

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.

Burget L, Parera LA, Fernandez-Cancio M, Gräni R, Henzen C, Flück CE.

Endocrinol Diabetes Metab Case Rep. 2018 Mar 21;2018. pii: 18-0003. doi: 10.1530/EDM-18-0003. eCollection 2018.

12.

Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems.

Udhane SS, Legeza B, Marti N, Hertig D, Diserens G, Nuoffer JM, Vermathen P, Flück CE.

Sci Rep. 2017 Aug 17;7(1):8652. doi: 10.1038/s41598-017-09189-y.

13.

Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway.

Marti N, Malikova J, Galván JA, Aebischer M, Janner M, Sumnik Z, Obermannova B, Escher G, Perren A, Flück CE.

Mol Cell Endocrinol. 2017 Sep 5;452:64-73. doi: 10.1016/j.mce.2017.05.014. Epub 2017 May 10.

PMID:
28501574
14.

MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.

Flück CE.

Eur J Endocrinol. 2017 Sep;177(3):R99-R111. doi: 10.1530/EJE-17-0128. Epub 2017 Apr 27. Review.

PMID:
28450305
15.

Resveratrol inhibits androgen production of human adrenocortical H295R cells by lowering CYP17 and CYP21 expression and activities.

Marti N, Bouchoucha N, Sauter KS, Flück CE.

PLoS One. 2017 Mar 21;12(3):e0174224. doi: 10.1371/journal.pone.0174224. eCollection 2017.

16.

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

Probst-Scheidegger U, Udhane SS, l'Allemand D, Flück CE, Camats N.

Sex Dev. 2016;10(4):200-204. Epub 2016 Sep 15.

17.

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

Parween S, Roucher-Boulez F, Flück CE, Lienhardt-Roussie A, Mallet D, Morel Y, Pandey AV.

J Clin Endocrinol Metab. 2016 Dec;101(12):4789-4798. Epub 2016 Sep 7.

PMID:
27603900
18.

Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: Insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome.

Dhayat NA, Dick B, Frey BM, d'Uscio CH, Vogt B, Flück CE.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt B):312-322. doi: 10.1016/j.jsbmb.2016.07.009. Epub 2016 Jul 25.

19.

Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome.

Marti N, Galván JA, Pandey AV, Trippel M, Tapia C, Müller M, Perren A, Flück CE.

Mol Cell Endocrinol. 2017 Feb 5;441:116-123. doi: 10.1016/j.mce.2016.07.029. Epub 2016 Jul 25.

PMID:
27471004
20.

Primus-Eugen Mullis, MD (1954-2016).

Dattani M, Mullis A, Flück CE.

Pediatr Endocrinol Rev. 2016 Jun;13(4):712-3. No abstract available.

PMID:
27464413

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