Works by Maghnie, Mohamad
Results: 138
Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.".
- Published in:
- 2020
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- Publication type:
- Letter
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
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- Article
Approach to the Child and Adolescent With Adrenal Insufficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 3, p. 863, doi. 10.1210/clinem/dgae564
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- Article
To sleep or not to sleep: An Italian Control-IQ-uestion.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.996453
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- Article
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.975511
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- Article
Infectious diseases associated with pediatric type 1 diabetes mellitus: A narrative review.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.966344
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- Article
Expert Opinion on the Management of Growth Hormone Deficiency in Brain Tumor Survivors: Results From an Italian Survey.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.920482
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- Article
Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.894878
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- Publication type:
- Article
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534
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- Publication type:
- Article
A novel pathogenic <italic>MYH3</italic> mutation in a child with Sheldon–Hall syndrome and vertebral fusions.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 663, doi. 10.1002/ajmg.a.38593
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- Article
Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program.
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- 2018
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- Publication type:
- journal article
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome.
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- 2018
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- Publication type:
- journal article
Growth and Puberty in Juvenile Dermatomyositis: A Longitudinal Cohort Study.
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- 2020
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- Publication type:
- journal article
Postoperative intensive care management and residual endocrinopathy of pediatric supratentorial brain tumors: a retrospective cohort study.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 6, p. 795, doi. 10.1515/jpem-2021-0779
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- Publication type:
- Article
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 95, doi. 10.1515/jpem-2018-0272
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- Publication type:
- Article
Individualised growth response optimisation (iGRO) tool: an accessible and easy-to-use growth prediction system to enable treatment optimisation for children treated with growth hormone.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1019, doi. 10.1515/jpem-2017-0120
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- Publication type:
- Article
International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03236-4
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- Article
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
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- 2016
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- Publication type:
- journal article
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
- Published in:
- 2016
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- Publication type:
- journal article
Central diabetes insipidus in children and young adults: etiological diagnosis and long-term outcome of idiopathic cases.
- Published in:
- 2014
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- Publication type:
- Journal Article
Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways.
- Published in:
- 2014
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- Publication type:
- Journal Article
Recombinant Human GH Replacement Therapy in Children with Pseudohypoparathyroidism Type Ia: First Study on the Effect on Growth.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. 5011, doi. 10.1210/jc.2010-1649
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- Publication type:
- Article
The Accuracy of the Glucagon Test Compared to the Insulin Tolerance Test in the Diagnosis of Adrenal Insufficiency in Young Children with Growth Hormone Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 5, p. 2132, doi. 10.1210/jc.2009-2697
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- Publication type:
- Article
Reassessment of the Growth Hormone Status in Young Adults with Childhood-Onset Growth Hormone Deficiency: Reappraisal of Insulin Tolerance Testing.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4195, doi. 10.1210/jc.2009-0602
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- Publication type:
- Article
The Glucagon Test in the Diagnosis of Growth Hormone Deficiency in Children With Short Stature Younger than 6 Years.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4251, doi. 10.1210/jc.2009-0779
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- Publication type:
- Article
Thyroid Function and Structure Are Affected in Childhood Obesity.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 12, p. 4749, doi. 10.1210/jc.2008-0823
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- Publication type:
- Article
Corticotropin Tests for Hypothalamic-Pituitary-Adrenal Insufficiency: A Metaanalysis.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 11, p. 4245, doi. 10.1210/jc.2008-0710
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- Publication type:
- Article
Deterioration of Growth Hormone (GH) Response and Anterior Pituitary Function in Young Adults with Childhood-Onset GH Deficiency and Ectopic Posterior Pituitary: A Two-Year Prospective Follow-Up Study.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 10, p. 3875, doi. 10.1210/jc.2007-1081
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- Publication type:
- Article
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
- Published in:
- 2007
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- Publication type:
- journal article
Novel HESX1 Mutations Associated with a LifeThreatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 11, p. 4528, doi. 10.1210/jc.2006-0426
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- Publication type:
- Article
Adult Height in Patients with Permanent Growth Hormone Deficiency with and without Multiple Pituitary Hormone Deficiencies.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 8, p. 2900, doi. 10.1210/jc.2006-0050
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- Publication type:
- Article
Inaccuracy of Insulin-Like Growth Factor (IGF) Binding Protein (IGFBP)-3 Assessment in the Diagnosis of Growth Hormone (GH) Deficiency from Childhood to Young Adulthood: Association to Low GH Dependency of IGF-II and Presence of Circulating IGFBP-3...
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 11, p. 6028, doi. 10.1210/jc.2005-0721
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- Publication type:
- Article
Is Growth Hormone Treatment in Young Children Safe for the Heart?
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 10, p. 5271, doi. 10.1210/jc.2004-1282
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- Publication type:
- Article
Timing of Pituitary Stalk Assessment in Langerhans Cell Histiocytosis: “When” Is Sometimes More Important than “What”.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 4166, doi. 10.1210/jc.2004-0230
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- Publication type:
- Article
Idiopathic Central Diabetes Insipidus Is Associated with Abnormal Blood Supply to the Posterior Pituitary Gland Caused by Vascular Impairment of the Inferior Hypophyseal Artery System.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 4, p. 1891, doi. 10.1210/jc.2003-031608
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- Publication type:
- Article
Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 9, p. 4070, doi. 10.1210/jc.2002-022028
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- Publication type:
- Article
Timing of Pituitary Stalk Assessment in Langerhans Cell Histiocytosis: “When” Is Sometimes More Important than “What”.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 8, p. 4166
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- Publication type:
- Article
Pituitary Magnetic Resonance Imaging in Idiopathic and Genetic Growth Hormone Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1911, doi. 10.1210/jc.2002-021857
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- Publication type:
- Article
GHRH Plus Arginine in the Diagnosis of Acquired GH Deficiency of Childhood-Onset.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2740, doi. 10.1210/jcem.87.6.8546
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- Publication type:
- Article
Relationship between the Morphological Evaluation of the Pituitary and the Growth Hormone (GH) Response to GH-Releasing Hormone Plus Arginine in Children and Adults with Congenital Hypopituitarism.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 4, p. 1574, doi. 10.1210/jcem.86.4.7394
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- Publication type:
- Article
Dynamic Endocrine Testing and Magnetic Resonance Imaging in the Long Term Follow-Up of Childhood Langerhans Cell Histiocytosis.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 9, p. 3089, doi. 10.1210/jcem.83.9.5108
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- Publication type:
- Article
Prognostic factors in children and adolescents with differentiated thyroid carcinoma treated with total thyroidectomy and RAI: a real-life multicentric study.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2022, v. 49, n. 4, p. 1374, doi. 10.1007/s00259-021-05586-8
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- Publication type:
- Article
Gut-microbiota in children and adolescents with obesity: inferred functional analysis and machine-learning algorithms to classify microorganisms.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36533-2
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- Publication type:
- Article
Failure to increase insulin-like growth factor-I synthesis is involved in the mechanisms of growth retardation of children with inherited liver disorders.
- Published in:
- Clinical Endocrinology, 1998, v. 48, n. 6, p. 747, doi. 10.1046/j.1365-2265.1998.00425.x
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- Publication type:
- Article
Antipituitary antibodies in patients with pituitary abnormalities and hormonal deficiency.
- Published in:
- Clinical Endocrinology, 1994, v. 40, n. 6, p. 809, doi. 10.1111/j.1365-2265.1994.tb02518.x
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- Publication type:
- Article
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
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- Clinical Endocrinology, 1994, v. 40, n. 1, p. 39, doi. 10.1111/j.1365-2265.1994.tb02441.x
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- Publication type:
- Article
SPISE INDEX (Single point insulin sensitivity estimator): indicator of insulin resistance in children and adolescents with overweight and obesity.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1439901
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- Publication type:
- Article
Short Stature Diagnosis and Referral.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2017.00374
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- Publication type:
- Article
Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 581, doi. 10.3390/genes13040581
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- Publication type:
- Article
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 588, doi. 10.3390/genes12040588
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- Publication type:
- Article