Detalhe da pesquisa
1.
Formin-mediated nuclear actin at androgen receptors promotes transcription.
Nature
; 617(7961): 616-622, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36972684
2.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
3.
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
J Med Genet
; 60(5): 469-476, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227713
4.
A Prospective Analysis of the Metyrapone Short Test Using Targeted and Untargeted Metabolomics.
Neuroendocrinology
; 113(7): 770-784, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646062
5.
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Hum Mutat
; 43(3): 420-433, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34979047
6.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet
; 104(5): 985-989, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006513
7.
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.
Clin Endocrinol (Oxf)
; 96(2): 165-174, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668586
8.
The role of gonadotropins in testicular and adrenal androgen biosynthesis pathways-Insights from males with congenital hypogonadotropic hypogonadism on hCG/rFSH and on testosterone replacement.
Clin Endocrinol (Oxf)
; 94(1): 90-101, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32871622
9.
Transition from gynaecomastia to lipomastia in pubertal boys.
Clin Endocrinol (Oxf)
; 94(4): 583-589, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351202
10.
New Insights Into Extended Steroid Hormone Profiles in Transwomen in a Multi-Center Setting in Germany.
J Sex Med
; 18(10): 1807-1817, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34600646
11.
Type 1 diabetes and epilepsy in childhood and adolescence: Do glutamic acid decarboxylase autoantibodies play a role? Data from the German/Austrian/Swiss/Luxembourgian DPV Registry.
Pediatr Diabetes
; 21(5): 766-773, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333480
12.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.
Proc Natl Acad Sci U S A
; 114(10): E1933-E1940, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228528
13.
A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report.
BMC Endocr Disord
; 19(1): 116, 2019 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666050
14.
Weight loss in obese girls with polycystic ovarian syndrome is associated with a decrease in Anti-Muellerian Hormone concentrations.
Clin Endocrinol (Oxf)
; 87(2): 185-193, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432801
15.
Prenatal maternal distress seems to be associated with the infant's temperament and motor development: an explorative study.
J Neural Transm (Vienna)
; 124(7): 881-890, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28361282
16.
Copeptin in obese children and adolescents: relationships to body mass index, cortisol and gender.
Clin Endocrinol (Oxf)
; 85(6): 868-873, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624976
17.
Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.
Eur J Pediatr
; 175(5): 613-22, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670026
18.
New LC-MS/MS reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns.
Eur J Endocrinol
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652605
19.
The endocrine phenotype induced by paediatric adrenocortical tumours is age- and sex-dependent.
J Clin Endocrinol Metab
; 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318871
20.
Pilot study shows suppression of mineralocorticoid precursors under high-dose glucocorticoid therapy in pediatric acute lymphoblastic leukemia.
Endocr Connect
; 12(10)2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523248