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Gender-affirming hormonal therapy induces a gender-concordant fecal metagenome transition in transgender individuals.
- Published in:
- BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03548-z
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- Publication type:
- Article
The adrenal steroid profile in adolescent depression: a valuable bio-readout?
- Published in:
- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01966-2
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- Publication type:
- Article
Topical glucocorticoid application causing iatrogenic Cushing's syndrome followed by secondary adrenal insufficiency in infants: two case reports.
- Published in:
- 2022
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- Publication type:
- Case Study
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 610, doi. 10.1038/ejhg.2013.197
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- Publication type:
- Article
17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension.
- Published in:
- Turkish Journal of Endocrinology & Metabolism, 2014, v. 18, n. 4, p. 137, doi. 10.4274/tjem.2415
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- Publication type:
- Article
Classic genetic and hormonal switches during fetal sex development and beyond.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 3, p. 163, doi. 10.1515/medgen-2023-2036
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- Publication type:
- Article
Disorders of sex development expose transcriptional autonomy ofgenetic sex and androgen-programmed hormonal sex in humanblood leukocytes.
- Published in:
- BMC Genomics, 2009, v. 10, p. 292, doi. 10.1186/1471-2164-10-292
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- Publication type:
- Article
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65439-w
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- Publication type:
- Article
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
- Published in:
- Sexual Development, 2016, v. 9, n. 5, p. 260, doi. 10.1159/000442309
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- Publication type:
- Article
46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene.
- Published in:
- Sexual Development, 2014, v. 8, n. 4, p. 151, doi. 10.1159/000363201
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- Publication type:
- Article
Prenatal maternal distress seems to be associated with the infant's temperament and motor development: an explorative study.
- Published in:
- Journal of Neural Transmission, 2017, v. 124, n. 7, p. 881, doi. 10.1007/s00702-017-1712-0
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- Publication type:
- Article
New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 5, p. 401, doi. 10.1093/ejendo/lvae046
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- Publication type:
- Article
Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31 330 young patients with type 1 diabetes.
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- European Journal of Endocrinology, 2015, v. 173, n. 3, p. 341, doi. 10.1530/EJE-15-0129
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- Publication type:
- Article
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 5, p. 697, doi. 10.1530/EJE-13-0737
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- Publication type:
- Article
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 5, p. 707, doi. 10.1530/EJE-12-1000
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- Publication type:
- Article
Size Matters: The CAG Repeat Length of the Androgen Receptor Gene, Testosterone, and Male Adolescent Depression Severity.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.732759
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- Publication type:
- Article
GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 150, doi. 10.1159/000503783
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- Publication type:
- Article
Needle-Free and Needle-Based Growth Hormone Therapy in Children: A Pooled Analysis of Three Long-Term Observational Studies.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 393, doi. 10.1159/000496614
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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
Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS).
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 3, p. 169, doi. 10.1159/000492397
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- Publication type:
- Article
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 2, p. 138, doi. 10.1159/000487927
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- Publication type:
- Article
Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 4, p. 255, doi. 10.1159/000488028
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- Publication type:
- Article
Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 6, p. 408, doi. 10.1159/000480505
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- Publication type:
- Article
Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 127, doi. 10.1159/000475992
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- Publication type:
- Article
Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 5, p. 354, doi. 10.1159/000453613
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- Publication type:
- Article
The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 1, p. 43, doi. 10.1159/000381852
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- Publication type:
- Article
17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 5, p. 350, doi. 10.1159/000357065
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- Publication type:
- Article
The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 163, doi. 10.1159/000354086
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- Publication type:
- Article
Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 1, p. 22, doi. 10.1159/000346406
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- Publication type:
- Article
Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 2, p. 100, doi. 10.1159/000336344
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- Publication type:
- Article
The molecular basis of male sexual differentiation.
- Published in:
- European Journal of Endocrinology, 2000, v. 142, n. 2, p. 101, doi. 10.1530/eje.0.1420101
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- Publication type:
- Article
The Endocrine Phenotype Induced by Pediatric Adrenocortical Tumors Is Age- and Sex-Dependent.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 8, p. 2053, doi. 10.1210/clinem/dgae073
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- Publication type:
- Article
Salivary Diurnal Glucocorticoid Profiles in Monozygotic Twins With Intratwin Birthweight Differences.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 1, p. e40, doi. 10.1210/clinem/dgad492
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- Publication type:
- Article
Sex Hormone Profile in Pubertal Boys With Gynecomastia and Pseudogynecomastia.
- Published in:
- 2020
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- Publication type:
- journal article
Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073288
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- Publication type:
- Article
Stress-Coping and Cortisol Analysis in Patients with Non-Syndromic Cleft Lip and Palate: An Explorative Study.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041015
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- Publication type:
- Article
CYP17A1 Intron Mutation Causing Cryptic Splicing in 17&agr;-Hydroxylase Deficiency.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025492
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- Publication type:
- Article
Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1301, doi. 10.1210/jc.2009-1176
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- Publication type:
- Article
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
- Published in:
- 2008
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- Publication type:
- journal article
Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1418, doi. 10.1210/jc.2007-1874
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- Publication type:
- Article
The A645D Mutation in the Hinge Region of the Human Androgen Receptor (AR) Gene Modulates AR Activity, Depending on the Context of the Polymorphic Glutamine and Glycine Repeats.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 9, p. 3515, doi. 10.1210/jc.2006-0372
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- Publication type:
- Article
Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 7, p. 2682, doi. 10.1210/jc.2006-0209
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- Publication type:
- Article
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
- Published in:
- 2005
- By:
- Publication type:
- journal article
A Unique Exonic Splicing Mutation in the Human Androgen Receptor Gene Indicates a Physiologic Relevance of Regular Androgen Receptor Transcript Variants.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 6, p. 2569, doi. 10.1210/jcem.86.6.7543
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- Publication type:
- Article
Phenotypic Diversity and Testosterone-Induced Normalization of Mutant L712F Androgen Receptor Function in a Kindred with Androgen Insensitivity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3245, doi. 10.1210/jcem.85.9.6812
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- Publication type:
- Article
Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome.
- Published in:
- Endocrine (1355008X), 2022, v. 76, n. 3, p. 722, doi. 10.1007/s12020-022-03017-8
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- Publication type:
- Article
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel.
- Published in:
- Clinical Endocrinology, 2009, v. 70, n. 2, p. 252, doi. 10.1111/j.1365-2265.2008.03314.x
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- Publication type:
- Article
Birth Weight in Different Etiologies of Disorders of Sex Development.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid Pathway.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Relationships between 24-hour urinary free cortisol concentrations and metabolic syndrome in obese children.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article