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Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis.
- Published in:
- Scientific Reports, 2015, p. 10132, doi. 10.1038/srep10132
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- Publication type:
- Article
Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0203903
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- Publication type:
- Article
Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis.
- Published in:
- Endocrinology, 2024, v. 165, n. 3, p. 1, doi. 10.1210/endocr/bqae014
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- Publication type:
- Article
Cholesterol Deprivation Drives DHEA Biosynthesis in Human Adrenals.
- Published in:
- Endocrinology, 2022, v. 163, n. 7, p. 1, doi. 10.1210/endocr/bqac076
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- Publication type:
- Article
P450 Oxidoreductase Deficiency A New Disorder of Steroidogenesis.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1061, n. 1, p. 100, doi. 10.1196/annals.1336.012
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- Publication type:
- Article
Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.
- Published in:
- Human Reproduction, 2013, v. 28, n. 7, p. 1899, doi. 10.1093/humrep/det089
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- Publication type:
- Article
Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.
- Published in:
- 2013
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- Publication type:
- Journal Article
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.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00142
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- Publication type:
- Article
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3143, doi. 10.3390/ijms25063143
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- Publication type:
- Article
Molecular Aspects of Sex Development in Mammals: New Insight for Practice.
- Published in:
- 2020
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- Publication type:
- Editorial
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8554, doi. 10.3390/ijms21228554
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- Publication type:
- Article
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6185, doi. 10.3390/ijms21176185
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- Publication type:
- Article
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5857, doi. 10.3390/ijms21165857
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- Publication type:
- Article
Oligogenic Origin of Differences of Sex Development in Humans.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 5, p. 1809, doi. 10.3390/ijms21051809
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- Publication type:
- Article
Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study.
- Published in:
- Sexual Development, 2021, v. 15, n. 4, p. 229, doi. 10.1159/000517055
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- Publication type:
- Article
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 200, doi. 10.1159/000448724
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- Publication type:
- Article
LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitroand in vivoStudy.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 144, doi. 10.1159/000381575
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- Publication type:
- Article
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 228, doi. 10.1038/ng1300
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- Publication type:
- Article
Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 3, p. R99, doi. 10.1530/EJE-17-0128
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- Publication type:
- Article
Human 3Ś-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.
- Published in:
- European Journal of Endocrinology, 2015, v. 173, n. 5, p. K1, doi. 10.1530/EJE-15-0599
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- Publication type:
- Article
Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 3, p. K35, doi. 10.1530/EJE-12-0847
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- Publication type:
- Article
GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity.
- Published in:
- European Journal of Endocrinology, 2007, v. 157, p. S67, doi. 10.1530/EJE-07-0339
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- Publication type:
- Article
Introduction.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 2, p. 115, doi. 10.1159/000519896
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- Publication type:
- Article
Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 2, p. 169, doi. 10.1159/000519691
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- Publication type:
- Article
HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 4, p. 262, doi. 10.1159/000500522
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- Publication type:
- Article
Management of Gonads in Adults with Androgen Insensitivity: An International Survey.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 4, p. 236, doi. 10.1159/000493645
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- Publication type:
- Article
Primus-Eugen Mullis, November 1954 - January 2016.
- Published in:
- 2016
- By:
- Publication type:
- Obituary
Alteration of ZnT5-Mediated Zinc Import into the Early Secretory Pathway Affects the Secretion of Growth Hormone from Rat Pituitary Cells.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 245, doi. 10.1159/000365924
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- Publication type:
- Article
Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 3, p. 145, doi. 10.1159/000363107
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- Publication type:
- Article
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 1, p. 57, doi. 10.1159/000348515
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- Publication type:
- Article
Impact of Estrogen Replacement throughout Childhood on Growth, Pituitary-Gonadal Axis and Bone in a 46,XX Patient with CYP19A1 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 4, p. 261, doi. 10.1159/000341585
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- Publication type:
- Article
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0287515
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- Publication type:
- Article
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59D/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).
- Published in:
- European Journal of Endocrinology, 2001, v. 145, n. 4, p. 439
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- Publication type:
- Article
Update on Adrenarche—Still a Mystery.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 6, p. 1403, doi. 10.1210/clinem/dgae008
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- Publication type:
- Article
Effects of 2-Year Physical Activity and Dietary Intervention on Adrenarchal and Pubertal Development: The PANIC Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1603, doi. 10.1210/clinem/dgad367
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- Publication type:
- Article
Leukocyte Telomere Length in Children With Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 2, p. 443, doi. 10.1210/clinem/dgac560
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- Publication type:
- Article
The Androgen Metabolome of Preterm Infants Reflects Fetal Adrenal Gland Involution.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 11, p. 3111, doi. 10.1210/clinem/dgac482
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- Publication type:
- Article
Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 2, p. e487, doi. 10.1210/clinem/dgab701
- By:
- Publication type:
- Article
Approach to the Virilizing Girl at Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 5, p. 1530, doi. 10.1210/clinem/dgaa948
- By:
- Publication type:
- Article
Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel CYP17 A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17 A1 gene.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 10, p. 793, doi. 10.1002/ccr3.343
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- Publication type:
- Article
Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study.
- Published in:
- International Journal of Pediatric Endocrinology, 2013, v. 2013, n. 1, p. 1, doi. 10.1186/1687-9856-2013-21
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- Publication type:
- Article
Butyrate Increases Intracellular Calcium Levels and Enhances Growth Hormone Release from Rat Anterior Pituitary Cells via the G-Protein-Coupled Receptors GPR41 and 43.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0107388
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- Publication type:
- Article
Human <i>NR5A1</i>/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104838
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- Publication type:
- Article
Differential Regulation of Human 3β-Hydroxysteroid Dehydrogenase Type 2 for Steroid Hormone Biosynthesis by Starvation and Cyclic Amp Stimulation: Studies in the Human Adrenal NCI-H295R Cell Model.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068691
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- Publication type:
- Article
Role of AMP-Activated Protein Kinase on Steroid Hormone Biosynthesis in Adrenal NCI-H295R Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030956
- By:
- Publication type:
- Article
Characterization of Novel SCAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia.
- Published in:
- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020178
- By:
- Publication type:
- Article
Health behaviour of women with Turner Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 974, doi. 10.1210/jc.2007-1382
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- Publication type:
- Article