Found: 45
Select item for more details and to access through your institution.
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 6, p. 626, doi. 10.15252/emmm.201606250
- By:
- Publication type:
- Article
Approach to the Patient With Suspected Silver-Russell Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 10, p. e1889, doi. 10.1210/clinem/dgae423
- By:
- Publication type:
- Article
Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e401, doi. 10.1210/clinem/dgab550
- By:
- Publication type:
- Article
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Time to Diagnosis in Cushing's Syndrome: A Meta-Analysis Based on 5367 Patients.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Pediatric Cushing's Disease: Management Issues.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S171, doi. 10.4103/2230-8210.104032
- By:
- Publication type:
- Article
Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
- Published in:
- 2014
- By:
- Publication type:
- journal article
Clinical Experience in the Screening and Management of a Large Kindred With Familial Isolated Pituitary Adenoma Due to an Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutation.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Paediatric Cushing's disease: Epidemiology, pathogenesis, clinical management and outcome.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 4, p. 817, doi. 10.1007/s11154-021-09626-4
- By:
- Publication type:
- Article
The continuum between GH deficiency and GH insensitivity in children.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 1, p. 91, doi. 10.1007/s11154-020-09590-5
- By:
- Publication type:
- Article
Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 22, doi. 10.1159/000530841
- By:
- Publication type:
- Article
Pharmacokinetic Studies of Recombinant Human Insulin-Like Growth Factor I (rhIGF-I)/rhIGF-Binding Protein-3 Complex Administered to Patients with Growth Hormone Insensitivity Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1246, doi. 10.1210/jc.2005-1017
- By:
- Publication type:
- Article
Prepubertal Cushing’s Disease Is More Common in Males, But There Is No Increase in Severity at Diagnosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 3818, doi. 10.1210/jc.2003-031531
- By:
- Publication type:
- Article
Clinical and Endocrine Responses to Pituitary Radiotherapy in Pediatric Cushing’s Disease: An Effective Second-Line Treatment.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 1, p. 34, doi. 10.1210/jc.2002-021032
- By:
- Publication type:
- Article
Bedtime Salivary Cortisol as a Screening Test for Cushing Syndrome in Children.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 5, p. 1, doi. 10.1210/jendso/bvab033
- By:
- Publication type:
- Article
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1226839
- By:
- Publication type:
- Article
Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing's syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1029, doi. 10.1515/jpem-2014-0400
- By:
- Publication type:
- Article
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02928-7
- By:
- Publication type:
- Article
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
- Published in:
- European Journal of Endocrinology, 2023, v. 188, n. 4, p. 353, doi. 10.1093/ejendo/lvad039
- By:
- Publication type:
- Article
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 5, p. 617, doi. 10.1530/EJE-21-0387
- By:
- Publication type:
- Article
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
- Published in:
- European Journal of Endocrinology, 2020, v. 183, n. 6, p. 581, doi. 10.1530/EJE-20-0474
- By:
- Publication type:
- Article
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 5, p. 481, doi. 10.1530/EJE-18-0042
- By:
- Publication type:
- Article
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 6, p. 485, doi. 10.1530/EJE-17-0453
- By:
- Publication type:
- Article
Paediatric Cushing's disease.
- Published in:
- European Journal of Endocrinology, 2015, v. 173, n. 1, p. R35, doi. 10.1530/EJE-15-0013
- By:
- Publication type:
- Article
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 2, p. 151, doi. 10.1530/EJE-14-0541
- By:
- Publication type:
- Article
Long-term remission and recurrence rates in Cushing's disease: predictive factors in a single-centre study.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 4, p. 639, doi. 10.1530/EJE-12-0921
- By:
- Publication type:
- Article
Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushings disease.
- Published in:
- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 825, doi. 10.1530/eje.1.01921
- By:
- Publication type:
- Article
Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.781044
- By:
- Publication type:
- Article
Author response.
- Published in:
- British Journal of General Practice, 2023, v. 73, n. 731, p. 255, doi. 10.3399/bjgp23x732957
- By:
- Publication type:
- Article
Assessment of childhood short stature: a GP guide.
- Published in:
- British Journal of General Practice, 2023, v. 73, n. 729, p. 184, doi. 10.3399/bjgp23x732525
- By:
- Publication type:
- Article
Inequalities in the assessment of childhood short stature.
- Published in:
- British Journal of General Practice, 2023, v. 73, n. 729, p. 150, doi. 10.3399/bjgp23x732309
- By:
- Publication type:
- Article
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Regional differences in short stature in England between 2006 and 2019: A cross-sectional analysis from the National Child Measurement Programme.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family.
- Published in:
- International Journal of Endocrinology, 2018, p. 1, doi. 10.1155/2018/8581626
- By:
- Publication type:
- Article
Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G- protein-coupled receptor and the nucleus.
- Published in:
- FASEB Journal, 2007, v. 21, n. 14, p. 4095, doi. 10.1096/fj.06-7927com
- By:
- Publication type:
- Article
Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 1, p. 21, doi. 10.1159/000446913
- By:
- Publication type:
- Article
Use of Continuous Glucose Monitoring to Identify Glucose Dysregulation in Growth Hormone Insensitivity Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 394, doi. 10.1159/000369096
- By:
- Publication type:
- Article
Paediatric Pituitary Adenomas: A Decade of Change.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 145, doi. 10.1159/000357673
- By:
- Publication type:
- Article
Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 2, p. 115, doi. 10.1159/000277629
- By:
- Publication type:
- Article
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
- Published in:
- Endocrine Reviews, 2019, v. 40, n. 2, p. 476, doi. 10.1210/er.2018-00146
- By:
- Publication type:
- Article
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52587-w
- By:
- Publication type:
- Article
Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
- Published in:
- Clinical Endocrinology, 2017, v. 86, n. 2, p. 286, doi. 10.1111/cen.13246
- By:
- Publication type:
- Article
Endonasal endoscopic transsphenoidal pituitary surgery: early experience and outcome in paediatric Cushing's disease.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 2, p. 270, doi. 10.1111/cen.12275
- By:
- Publication type:
- Article