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Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil.
- Published in:
- Pituitary, 2021, v. 24, n. 2, p. 252, doi. 10.1007/s11102-020-01105-4
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- Publication type:
- Article
Congenital Hyperinsulinism in Brazilian Neonates: A Study of Histology, KATP Channel Genes, and Proliferation of β Cells.
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- 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.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 3, p. 1
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- Publication type:
- Article
Identification of Predictors of Metastatic Potential in Paragangliomas to Develop a Prognostic Score (PSPGL).
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- Journal of the Endocrine Society, 2024, v. 8, n. 7, p. 1, doi. 10.1210/jendso/bvae093
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- Publication type:
- Article
Clinical and Pathological Predictors of Death for Adrenocortical Carcinoma.
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- Journal of the Endocrine Society, 2024, v. 8, n. 4, p. 1, doi. 10.1210/jendso/bvad170
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- Publication type:
- Article
Efficacy of Oral Furosemide Test for Primary Aldosteronism Diagnosis.
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- Journal of the Endocrine Society, 2024, v. 8, n. 1, p. 1, doi. 10.1210/jendso/bvad147
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- Publication type:
- Article
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
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- Journal of the Endocrine Society, 2022, v. 6, n. 9, p. 1, doi. 10.1210/jendso/bvac106
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- Publication type:
- Article
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.
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- Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa148
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- Publication type:
- Article
A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia.
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- Journal of the Endocrine Society, 2020, v. 4, n. 8, p. 1, doi. 10.1210/jendso/bvaa083
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- Publication type:
- Article
New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.
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- Journal of the Endocrine Society, 2019, v. 3, n. 9, p. 1682, doi. 10.1210/js.2019-00225
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- Publication type:
- Article
Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency.
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- Journal of the Endocrine Society, 2019, v. 3, n. 8, p. 1574, doi. 10.1210/js.2019-00123
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- Publication type:
- Article
Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization.
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- Journal of the Endocrine Society, 2019, v. 3, n. 5, p. 1087, doi. 10.1210/js.2018-00405
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- Publication type:
- Article
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 264, doi. 10.1159/000524374
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- Publication type:
- Article
A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 197, doi. 10.1159/000509840
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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.
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- Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 127, doi. 10.1159/000475992
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- Publication type:
- Article
A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 333, doi. 10.1159/000445684
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- Publication type:
- Article
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis.
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- Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 449, doi. 10.1159/000355411
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- Publication type:
- Article
Obesity and Familial Predisposition Are Significant Determining Factors of an Adverse Metabolic Profile in Young Patients with Congenital Adrenal Hyperplasia.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 2, p. 111, doi. 10.1159/000353762
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- Publication type:
- Article
Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty.
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- Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 144, doi. 10.1159/000342212
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- Publication type:
- Article
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 165, doi. 10.1159/000342760
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- Publication type:
- Article
Could the Leukocyte X Chromosome Inactivation Pattern Be Extrapolated to Hair Bulbs?
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- Hormone Research in Paediatrics, 2010, v. 73, n. 4, p. 238, doi. 10.1159/000284387
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- Publication type:
- Article
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
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- 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
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- Publication type:
- journal article
Effects of long-term storage of filter paper blood samples on neonatal thyroid stimulating hormone, thyroxin and 17-alpha-hydroxyprogesterone measurements.
- Published in:
- Journal of Medical Screening, 2008, v. 15, n. 3, p. 109, doi. 10.1258/jms.2008.007086
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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
Evaluation of SHOX defects in the era of next‐generation sequencing.
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- Clinical Genetics, 2019, v. 96, n. 3, p. 261, doi. 10.1111/cge.13587
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- Publication type:
- Article
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 172, doi. 10.1111/cge.13459
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- Publication type:
- Article
Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects.
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- Clinical Genetics, 2018, v. 94, n. 5, p. 489, doi. 10.1111/cge.13437
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- Publication type:
- Article
Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg).
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 11, p. 1371, doi. 10.1515/jpem-2021-0142
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- Publication type:
- Article
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 173, doi. 10.1515/jpem-2018-0435
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- Publication type:
- Article
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 2, p. 223, doi. 10.1515/jpem-2017-0095
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- Publication type:
- Article
Assessment of stress levels in girls with central precocious puberty before and during longacting gonadotropin-releasing hormone agonist treatment: a pilot study.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 6, p. 657, doi. 10.1515/jpem-2016-0425
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- Publication type:
- Article
Adrenal Nodules in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Regression after Adequate Hormonal Control.
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- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 4, p. 415, doi. 10.1515/jpem.2001.14.4.415
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- Publication type:
- Article
Insulin-like Growth Factor-I Treatment in Two Children with Growth Hormone Gene Deletions.
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- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 4, p. 499, doi. 10.1515/jpem.1999.12.4.499
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- Publication type:
- Article
Serum Inhibin Levels Before and After Gonadotropin Stimulation in Cryptorchid Boys Under Age 4 Years.
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- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 6, p. 687, doi. 10.1515/jpem.1998.11.6.687
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- Publication type:
- Article
Long-Acting Gonadotropin-Releasing Hormone Agonists in the Differential Diagnosis of Male Precocious Puberty.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 5, p. 499
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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.
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- 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
The Use of Genetics for Reaching a Diagnosis in XY DSD.
- Published in:
- Sexual Development, 2022, v. 16, n. 2/3, p. 207, doi. 10.1159/000524881
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- Publication type:
- Article
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
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- Sexual Development, 2022, v. 16, n. 2/3, p. 171, doi. 10.1159/000525119
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- Publication type:
- Article
WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
- Published in:
- 2022
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- Publication type:
- Case Study
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.
- Published in:
- Sexual Development, 2022, v. 16, n. 1, p. 27, doi. 10.1159/000518091
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- Publication type:
- Article
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
- Published in:
- Sexual Development, 2017, v. 11, n. 2, p. 78, doi. 10.1159/000468957
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- Publication type:
- Article
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.
- Published in:
- Sexual Development, 2017, v. 11, n. 3, p. 137, doi. 10.1159/000477193
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- Publication type:
- Article
The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty.
- Published in:
- Endocrine Reviews, 2023, v. 44, n. 2, p. 193, doi. 10.1210/endrev/bnac020
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- Publication type:
- Article
Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.
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- Endocrine Reviews, 2019, v. 40, n. 6, p. 1547, doi. 10.1210/er.2019-00049
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- Publication type:
- Article
Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.
- Published in:
- 2016
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- 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
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
- Published in:
- 2014
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- Publication type:
- journal 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