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Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Congenital Hyperinsulinism in Brazilian Neonates: A Study of Histology, KATP Channel Genes, and Proliferation of β Cells.
- Published in:
- Pediatric & Developmental Pathology, 2010, v. 13, n. 5, p. 375, doi. 10.2350/08-12-0578.1
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- Publication type:
- Article
CONGENITAL HYPERINSULINISM IN BRAZILIAN NEONATES: A STUDY OF HISTOLOGY, KATP CHANNEL GENES AND PROLIFERATION OF β-CELLS.
- Published in:
- Pediatric & Developmental Pathology, 2010, v. 13, n. 3, p. 1
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- Publication type:
- Article
The laparoscopic management of intersex patients: the preferred approach.
- Published in:
- BJU International, 2005, v. 95, n. 6, p. 863, doi. 10.1111/j.1464-410X.2005.05417.x
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- Publication type:
- Article
Surgery for adrenal tumours with thrombus in the supra-diaphragmatic infra-atrial inferior vena cava, with no cardiopulmonary bypass.
- Published in:
- BJU International, 2004, v. 94, n. 1, p. 70, doi. 10.1111/j.1464-410X.2004.04903.x
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- Publication type:
- Article
Methylome profiling of healthy and central precocious puberty girls.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0581-1
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- Publication type:
- Article
High 18F-FDG uptake in PMAH correlated with normal expression of Glut1, HK1, HK2, and HK3.
- Published in:
- 2016
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- Publication type:
- journal article
A meiotic recombination in a new isolated familial somatotropinoma kindred.
- Published in:
- European Journal of Endocrinology, 2004, v. 150, n. 5, p. 0643
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- Publication type:
- Article
GH Treatment in Children of Normal Height.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 10, p. e1955, doi. 10.1210/clinem/dgae457
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- Publication type:
- Article
Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 1, p. 68, doi. 10.1210/clinem/dgad470
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- Publication type:
- Article
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 8, p. 2105, doi. 10.1210/clinem/dgad028
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- Publication type:
- Article
Clinical and Genetic Characterization of Familial Central Precocious Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1758, doi. 10.1210/clinem/dgac763
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- Publication type:
- Article
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1797, doi. 10.1210/clinem/dgac064
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- Publication type:
- Article
Primary Adrenal Insufficiency Due to Bilateral Adrenal Infarction in COVID-19.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e394, doi. 10.1210/clinem/dgab557
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- Publication type:
- Article
Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency.
- Published in:
- 2019
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- Publication type:
- journal article
Low Protein Expression of both ATRX and ZNRF3 as Novel Negative Prognostic Markers of Adult Adrenocortical Carcinoma.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1238, doi. 10.3390/ijms22031238
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- Publication type:
- Article
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2084
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- Publication type:
- Article
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
- Published in:
- Neuroendocrinology, 2023, v. 113, n. 8, p. 834, doi. 10.1159/000529615
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- Publication type:
- Article
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
- Published in:
- Neuroendocrinology, 2020, v. 110, n. 11/12, p. 959, doi. 10.1159/000504783
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- Publication type:
- Article
Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog.
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- Neuroendocrinology, 2020, v. 110, n. 7/8, p. 705, doi. 10.1159/000504446
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- Publication type:
- Article
Central Precocious Puberty Caused by a Heterozygous Deletion in the <bold>MKRN3</bold> Promoter Region.
- Published in:
- Neuroendocrinology, 2018, v. 107, n. 2, p. 127, doi. 10.1159/000490059
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- Publication type:
- Article
Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects.
- Published in:
- Neuroendocrinology, 2018, v. 106, n. 3, p. 203, doi. 10.1159/000477584
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- Publication type:
- Article
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
- Published in:
- Neuroendocrinology, 2017, v. 105, n. 1, p. 17, doi. 10.1159/000446963
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- Publication type:
- Article
Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma.
- Published in:
- Neuroendocrinology, 2016, v. 104, n. 2, p. 183, doi. 10.1159/000446072
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- Publication type:
- Article
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2700, doi. 10.1002/ajmg.a.35519
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- Publication type:
- Article
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2017, p. 1557, doi. 10.1210/jc.2016-3677
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- Publication type:
- Article
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism.
- Published in:
- 2014
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- Publication type:
- Journal Article
ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
- Published in:
- 2014
- By:
- Publication type:
- journal article
<sup>18</sup>F-FDG-PET/CT Imaging of ACTH-Independent Macronodular Adrenocortical Hyperplasia (AIMAH) Demonstrating Increased <sup>18</sup>F-FDG Uptake.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. 3300, doi. 10.1210/jc.2011-1397
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- Publication type:
- Article
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. E1457, doi. 10.1210/jc.2011-0170
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- Publication type:
- Article
Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00036
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- Publication type:
- Article
Impact of Glucocorticoid Receptor Gene Polymorphisms on the Metabolic Profile of Adult Patients with the Classical Form of 21-Hydroxylase Deficiency.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044893
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- Publication type:
- Article
A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. E384, doi. 10.1210/jc.2010-1050
- By:
- Publication type:
- Article
Influence of the Fibroblast Growth Factor Receptor 4 Expression and the G388R Functional Polymorphism on Cushing’s Disease Outcome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 10, p. E271, doi. 10.1210/jc.2010-0047
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- Publication type:
- Article
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
- Published in:
- 2010
- By:
- Publication type:
- journal article
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1458, doi. 10.1210/jc.2009-2040
- By:
- Publication type:
- Article
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Novel Mutations in CYP11B1 Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 9, p. 3481, doi. 10.1210/jc.2008-2521
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- Publication type:
- Article
The −202 A Allele of Insulin-Like Growth Factor Binding Protein-3 (IGFBP3) Promoter Polymorphism Is Associated with Higher IGFBP-3 Serum Levels and Better Growth Response to Growth Hormone Treatment in Patients with Severe Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 2, p. 588, doi. 10.1210/jc.2008-1608
- By:
- Publication type:
- Article
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 10, p. 4113, doi. 10.1210/jc.2008-0958
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- Publication type:
- Article
Expression of Insulin-Like Growth Factor-II and Its Receptor in Pediatric and Adult Adrenocortical Tumors.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 9, p. 3524, doi. 10.1210/jc.2008-0065
- By:
- Publication type:
- Article
Factors Determining Normal Adult Height in Girls with Gonadotropin-Dependent Precocious Puberty Treated with Depot Gonadotropin-Releasing Hormone Analogs.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 7, p. 2662, doi. 10.1210/jc.2007-2183
- By:
- Publication type:
- Article
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
- Published in:
- 2008
- By:
- Publication type:
- journal article