Found: 17
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Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Transcriptomic Response to 1,25-Dihydroxyvitamin D in Human Fibroblasts with or without a Functional Vitamin D Receptor (VDR): Novel Target Genes and Insights into VDR Basal Transcriptional Activity.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 4, p. 318, doi. 10.3390/cells8040318
- By:
- Publication type:
- Article
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
- Published in:
- FASEB Journal, 2011, v. 25, n. 4, p. 1166, doi. 10.1096/fj.10-170522
- By:
- Publication type:
- Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
- By:
- Publication type:
- Article
Symptomatic intracranial hypertension and prolonged hypocalcemia following treatment of Paget's disease of the skull with zoledronic acid.
- Published in:
- Journal of Bone & Mineral Metabolism, 2013, v. 31, n. 3, p. 360, doi. 10.1007/s00774-012-0395-8
- By:
- Publication type:
- 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.
- Published in:
- 2009
- By:
- Publication type:
- 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.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Nonspecific binding of a frequently used vitamin D receptor (VDR) antibody: important implications for vitamin D research in human health.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Acute and long-term kidney function after parathyroidectomy for primary hyperparathyroidism.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244162
- By:
- Publication type:
- Article
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.
- Published in:
- 2011
- By:
- Publication type:
- journal article
25-Hydroxyvitamin D and TSH as Risk Factors or Prognostic Markers in Thyroid Carcinoma.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164550
- By:
- Publication type:
- Article
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 59, doi. 10.1002/humu.20588
- By:
- Publication type:
- Article
Identification of Predictors of Metastatic Potential in Paragangliomas to Develop a Prognostic Score (PSPGL).
- Published in:
- Journal of the Endocrine Society, 2024, v. 8, n. 7, p. 1, doi. 10.1210/jendso/bvae093
- By:
- Publication type:
- Article
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab086
- By:
- Publication type:
- Article
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa148
- By:
- Publication type:
- Article
POD-1/TCF21 Reduces SHP Expression, Affecting LRH-1 Regulation and Cell Cycle Balance in Adrenocortical and Hepatocarcinoma Tumor Cells.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The role of enteric hormone GLP-2 in the response of bone markers to a mixed meal in postmenopausal women with type 2 diabetes mellitus.
- Published in:
- Diabetology & Metabolic Syndrome, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13098-015-0006-7
- By:
- Publication type:
- Article