Detalles de la búsqueda
1.
[Intersex and differences of sex development: background, diagnostics, and concepts of care]. / Intersexualität und Differences of Sex Development (DSD) : Grundlagen, Diagnostik und Betreuungsansätze.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 56(12): 1686-94, 2013 Dec.
Artículo
en Alemán
| MEDLINE | ID: mdl-24337131
2.
Principles and clinical applications of liquid chromatography - tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones.
J Endocrinol Invest
; 34(9): 702-8, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21738000
3.
Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions.
Eur J Endocrinol
; 182(6): P1-P15, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32268295
4.
Comparison of continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI) in paediatric Type 1 diabetes: a multicentre matched-pair cohort analysis over 3 years.
Diabet Med
; 25(1): 80-5, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18199134
5.
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet'
Eur J Endocrinol
; 179(4): R197-R206, 2018 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30299888
6.
Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor.
J Mol Med (Berl)
; 84(8): 651-9, 2006 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16572348
7.
Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
Eur J Endocrinol
; 176(5): P1-P9, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28188242
8.
Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
J Mol Med (Berl)
; 83(12): 1005-13, 2005 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-16283146
9.
Regional Disparities in Diabetes Care for Pediatric Patients with Type 1 Diabetes. A Cross-sectional DPV Multicenter Analysis of 24,928 German Children and Adolescents.
Exp Clin Endocrinol Diabetes
; 124(2): 111-9, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26895278
10.
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
J Clin Endocrinol Metab
; 101(11): 3959-3967, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27403927
11.
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
J Clin Endocrinol Metab
; 101(11): 4468-4477, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27583472
12.
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.
Eur J Endocrinol
; 152(2): 255-9, 2005 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15745934
13.
Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
Exp Clin Endocrinol Diabetes
; 113(8): 457-63, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16151980
14.
LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers.
Eur J Endocrinol
; 173(4): 517-24, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26315375
15.
Hormonally induced changes in apocrine secretion of transglutaminase in the rat dorsal prostate and coagulating gland.
Eur J Cell Biol
; 65(1): 49-59, 1994 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-7889995
16.
Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity.
J Clin Endocrinol Metab
; 85(9): 3245-50, 2000 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-10999816
17.
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.
J Clin Endocrinol Metab
; 86(6): 2569-75, 2001 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-11397856
18.
Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
J Clin Endocrinol Metab
; 85(8): 2810-5, 2000 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-10946887
19.
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
J Clin Endocrinol Metab
; 82(11): 3584-9, 1997 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-9360511
20.
The clinical and molecular spectrum of androgen insensitivity syndromes.
Am J Med Genet
; 63(1): 218-22, 1996 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-8723113