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Evolving growth hormone deficiency: proof of concept.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1398171
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- Article
Artificial intelligence in paediatric endocrinology: conflict or cooperation.
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- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 3, p. 209, doi. 10.1515/jpem-2023-0554
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- Article
Paediatric Cushing's disease: long-term outcome and predictors of recurrence.
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- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1345174
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- Article
Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 22, doi. 10.1159/000530841
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- Article
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
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- Reviews in Endocrine & Metabolic Disorders, 2023, v. 24, n. 2, p. 345, doi. 10.1007/s11154-023-09784-7
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- Article
Late-Onset Isolated Growth Hormone Deficiency.
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- JCEM Case Reports, 2023, v. 1, n. 2, p. 1, doi. 10.1210/jcemcr/luad011
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- Article
Editorial: Controversies in growth hormone treatment and diagnosis.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1013872
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- Article
Adherence to r-hGH Therapy in Pediatric Growth Hormone Deficiency: Current Perspectives on How Patient-Generated Data Will Transform r-hGH Treatment Towards Integrated Care.
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- Patient Preference & Adherence, 2022, v. 16, p. 1663, doi. 10.2147/PPA.S271453
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- Article
Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e401, doi. 10.1210/clinem/dgab550
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- Article
GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.781044
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- Article
Paediatric Cushing's disease: Epidemiology, pathogenesis, clinical management and outcome.
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- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 4, p. 817, doi. 10.1007/s11154-021-09626-4
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- Article
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
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- 2021
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- journal article
The continuum between GH deficiency and GH insensitivity in children.
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- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 1, p. 91, doi. 10.1007/s11154-020-09590-5
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- Article
Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach.
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- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 3, p. 225, doi. 10.4274/jcrpe.galenos.2019.2019.0153
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- Article
Abnormal linear growth in paediatric adrenal diseases: Pathogenesis, prevalence and management.
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- Clinical Endocrinology, 2020, v. 92, n. 2, p. 98, doi. 10.1111/cen.14131
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- Publication type:
- Article
Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy.
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- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 329, doi. 10.4274/jcrpe.galenos.2019.2019.0088
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- Article
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
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- Endocrine Reviews, 2019, v. 40, n. 2, p. 476, doi. 10.1210/er.2018-00146
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- Article
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
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- European Journal of Endocrinology, 2018, v. 178, n. 5, p. 481, doi. 10.1530/EJE-18-0042
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- 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.
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- European Journal of Endocrinology, 2017, v. 177, n. 6, p. 485, doi. 10.1530/EJE-17-0453
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- Article
Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 4, p. 475, doi. 10.1515/jpem-2016-0339
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- Article
Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 1, p. 21, doi. 10.1159/000446913
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- Article
Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 325, doi. 10.1159/000444525
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- Article
Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline.
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- 2015
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- journal article
Paediatric Cushing's disease.
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- European Journal of Endocrinology, 2015, v. 173, n. 1, p. R35, doi. 10.1530/EJE-15-0013
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- Article
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
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- European Journal of Endocrinology, 2015, v. 172, n. 2, p. 151, doi. 10.1530/EJE-14-0541
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- Article
Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing's syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1029, doi. 10.1515/jpem-2014-0400
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- Article
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
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- 2014
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- journal article
Paediatric Pituitary Adenomas: A Decade of Change.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 145, doi. 10.1159/000357673
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- Article
Endonasal endoscopic transsphenoidal pituitary surgery: early experience and outcome in paediatric Cushing's disease.
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- Clinical Endocrinology, 2014, v. 80, n. 2, p. 270, doi. 10.1111/cen.12275
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- Article
Pediatric Cushing's Disease: Management Issues.
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- Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S171, doi. 10.4103/2230-8210.104032
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- Article
The variability of responses to growth hormone therapy in children with short stature.
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- Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S178, doi. 10.4103/2230-8210.104034
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- Article
Identification and management of poor response to growth-promoting therapy in children with short stature.
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- Clinical Endocrinology, 2012, v. 77, n. 2, p. 169, doi. 10.1111/j.1365-2265.2012.04420.x
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- Article
The continuum of growth hormone–IGF-I axis defects causing short stature: diagnostic and therapeutic challenges.
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- Clinical Endocrinology, 2010, v. 72, n. 6, p. 721, doi. 10.1111/j.1365-2265.2009.03775.x
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- Article
Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation.
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- Hormone Research in Paediatrics, 2010, v. 73, n. 2, p. 115, doi. 10.1159/000277629
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- Article
Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 9, p. 3191, doi. 10.1210/jc.2008-2783
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- Article
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
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- Clinical Endocrinology, 2009, v. 71, n. 2, p. 171, doi. 10.1111/j.1365-2265.2008.03511.x
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- Article
The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline.
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- 2008
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- Publication type:
- journal article
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
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- European Journal of Endocrinology, 2007, v. 157, p. S33, doi. 10.1530/EJE-07-0292
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- 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.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1246, doi. 10.1210/jc.2005-1017
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- Article
Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushings disease.
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- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 825, doi. 10.1530/eje.1.01921
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- Article
Novel Growth Hormone Receptor Mutation in a Chinese Patient with Laron Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 2, p. 209, doi. 10.1515/jpem.2005.18.2.209
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- Article
Prepubertal Cushing’s Disease Is More Common in Males, But There Is No Increase in Severity at Diagnosis.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 3818, doi. 10.1210/jc.2003-031531
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- Article
Association between Insulin-Like Growth Factor I (IGF-I) Polymorphisms, Circulating IGF-I, and Pre- and Postnatal Growth in Two European Small for Gestational Age Populations.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4805, doi. 10.1210/jc.2003-030563
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- Article
Clinical and Endocrine Responses to Pituitary Radiotherapy in Pediatric Cushing’s Disease: An Effective Second-Line Treatment.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 1, p. 34, doi. 10.1210/jc.2002-021032
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- Article
Insulin-Like Growth Factor (IGF)-I Gene Deletion.
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- Reviews in Endocrine & Metabolic Disorders, 2002, v. 3, n. 4, p. 357
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- Article
Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity.
- Published in:
- Clinical Endocrinology, 2002, v. 57, n. 3, p. 357, doi. 10.1046/j.1365-2265.2002.01607.x
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- Publication type:
- Article
Relative Contributions of Inferior Petrosal Sinus Sampling and Pituitary Imaging in the Investigation of Children and Adolescents with ACTH-Dependent Cushing’s Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 12, p. 5711, doi. 10.1210/jc.86.12.5711
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- Article
Growth Hormone Therapy and Growth in Children with Noonan’s Syndrome: Results of 3 Years’ Follow-Up.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 5, p. 1953, doi. 10.1210/jcem.86.5.7468
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- Article
Tall stature in familial glucocorticoid deficiency.
- Published in:
- Clinical Endocrinology, 2000, v. 53, n. 4, p. 423, doi. 10.1046/j.1365-2265.2000.01122.x
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- Article
Linear Growth and Final Height after Treatment for Cushing’s Disease in Childhood.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3262, doi. 10.1210/jcem.85.9.6817
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- Article