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Bone Density and Bone Metabolism Are Normal After Long-Term Gluten-Free Diet in Young Celiac Patients.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1999, v. 94, n. 2, p. 398, doi. 10.1111/j.1572-0241.1999.867_r.x
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- Article
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.
- Published in:
- European Journal of Endocrinology, 2001, v. 145, n. 3, p. 249, doi. 10.1530/eje.0.1450249
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- Publication type:
- Article
Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program.
- Published in:
- 2021
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- Publication type:
- journal article
Vitamin D in childhood and adolescence: an expert position statement.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 5, p. 565, doi. 10.1007/s00431-015-2524-6
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- Publication type:
- Article
Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2316, doi. 10.1002/ajmg.a.36116
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- Publication type:
- Article
Autosomal Dominant Hypocalcemia in Monozygotic Twins Caused by a De Novo Germline Mutation Near the Amino-Terminus of the Human Calcium Receptor.
- Published in:
- Journal of Bone & Mineral Research, 2004, v. 19, n. 4, p. 578, doi. 10.1359/JBMR.040106
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- Publication type:
- Article
Longitudinal Changes of Bone Density and Bone Resorption in Hyperthyroid Girls During Treatment.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 11, p. 1971, doi. 10.1359/jbmr.1999.14.11.1971
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- Publication type:
- 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
Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: data from the Italian National Registry of infants with congenital hypothyroidism.
- Published in:
- 2013
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- Publication type:
- journal article
Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.
- Published in:
- 2013
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- Publication type:
- journal article
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia.
- Published in:
- 2012
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- Publication type:
- Journal Article
Diagnosis of hypochondroplasia: the role of radiological interpretation.
- Published in:
- Pediatric Radiology, 2001, v. 31, n. 3, p. 203, doi. 10.1007/s002470000398
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- Publication type:
- Article
Suprasellar granular cell tumor of the neurohypophysis in a child: unusual presentation in pediatric age of a rare tumor.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 6, p. 1031, doi. 10.1007/s00381-013-2062-3
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- Publication type:
- Article
Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00544
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- Publication type:
- Article
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
- Published in:
- 2008
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- Publication type:
- journal article
Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene
- Published in:
- 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
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2549, doi. 10.1210/jcem.87.6.8536
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- Publication type:
- Article
Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormoneα -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSHβ Gene
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 4, p. 1600, doi. 10.1210/jcem.86.4.7411
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- Publication type:
- Article
Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 7, p. 2469, doi. 10.1210/jcem.85.7.6694
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- Publication type:
- Article
Different Efficacy of Burosumab on Physical Performance and Serum Phosphate in Adult Patients with X-Linked Hyphophosphatemic Rickets during the First Six-Month of Treatment.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 8, p. 2906, doi. 10.3390/jcm12082906
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- Publication type:
- Article
STUDY OF THE EFFECTS OF BROMOCRIPTINE ON SEXUAL IMPOTENCE.
- Published in:
- Clinical Endocrinology, 1977, v. 7, n. 5, p. 417, doi. 10.1111/j.1365-2265.1977.tb03351.x
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- Publication type:
- Article
Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 159, doi. 10.1515/jpem-2018-0388
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- Publication type:
- Article
Rare cases of autoimmune hypothyroidism in young children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 9/10, p. 963, doi. 10.1515/jpem-2012-0423
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- Publication type:
- Article
Difficult treatment of consumptive hypothyroidism in a child with massive parotid hemangioma.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 1/2, p. 153, doi. 10.1515/jpem.2011.438
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- Publication type:
- Article
Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 801, doi. 10.1515/JPEM.2011.214
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- Publication type:
- Article
Clinical Presentation of McCune-Albright Syndrome in Males.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, p. 619, doi. 10.1515/jpem.2006.19.s2.619
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- Publication type:
- Article
Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 1, p. 45, doi. 10.1530/EJE-20-1444
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- Publication type:
- Article
Post-Surgical Metabolic Imbalance in Adolescents with Renal Hypophosphatemic Rickets.
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- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 6, p. 657, doi. 10.1515/jpem.2000.13.6.657
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- Publication type:
- Article
Prevalence of Thyroid Autoantibodies and Thyroid Autoimmune Disease in Diabetic Children and Adolescents.
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- Diabetes Care, 1994, v. 17, n. 7, p. 782, doi. 10.2337/diacare.17.7.782
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- Publication type:
- Article
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2007, v. 34, n. 9, p. 1498, doi. 10.1007/s00259-007-0377-6
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- Publication type:
- Article
Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2004, v. 18, n. 1, p. 77, doi. 10.1002/rcm.1284
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- Publication type:
- Article
Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01000-z
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- Publication type:
- Article
A frequent oligogenic involvement in congenital hypothyroidism.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2507, doi. 10.1093/hmg/ddx145
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- Publication type:
- Article
Congenital Hypothyroidism Treatment in Infants: A Comparative Study between Liquid and Tablet Formulations of Levothyroxine.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 50, doi. 10.1159/000356047
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- Publication type:
- Article
Levothyroxine Treatment in Pediatric Benign Thyroid Nodules.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 4, p. 246, doi. 10.1159/000321841
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- Publication type:
- Article
Implications of deferred diagnosis of paediatric intracranial germ cell tumours.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 3, p. 1, doi. 10.1002/pbc.30168
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- Publication type:
- Article
Endocrine manifestations of paediatric intracranial germ cell tumours: from diagnosis to long-term follow-up.
- Published in:
- Endocrine (1355008X), 2022, v. 77, n. 3, p. 546, doi. 10.1007/s12020-022-03121-9
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- Publication type:
- Article
Growth hormone therapy in children: predictive factors and short-term and long-term response criteria.
- Published in:
- Endocrine (1355008X), 2019, v. 66, n. 3, p. 614, doi. 10.1007/s12020-019-02057-x
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- Publication type:
- Article
Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study.
- Published in:
- Endocrine (1355008X), 2015, v. 50, n. 3, p. 674, doi. 10.1007/s12020-015-0574-1
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- Publication type:
- Article
Validation of food frequency questionnaire for assessing dietary macronutrients and calcium intake in Italian children and adolescents.
- Published in:
- 2005
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- Publication type:
- journal article
Decreased Parietal Cortex Activity during Mental Rotation in Children with Congenital Hypothyroidism.
- Published in:
- Neuroendocrinology, 2009, v. 89, n. 1, p. 56, doi. 10.1159/000151397
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- Publication type:
- Article
Asymptomatic Thyrotropin-Secreting Pituitary Macroadenoma in a 13-Year-Old Girl: Successful First-Line Treatment with Somatostatin Analogs.
- Published in:
- Thyroid, 2012, v. 22, n. 10, p. 1076, doi. 10.1089/thy.2012.0077
- By:
- Publication type:
- Article
Total Iodide Organification Defect: Clinical and MolecularCharacterization of an Italian Family.
- Published in:
- Thyroid, 2005, v. 15, n. 9, p. 1085
- By:
- Publication type:
- Article
Crying Abnormalities in Congenital Hypothyroidism: Preliminary Spectrographic Study.
- Published in:
- Journal of Child Neurology, 2000, v. 15, n. 9, p. 603
- By:
- Publication type:
- Article
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
- Published in:
- 2019
- By:
- Publication type:
- journal article
Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 14, p. 1, doi. 10.1186/s13052-015-0190-y
- By:
- Publication type:
- Article
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 395, doi. 10.1002/humu.9372
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- Publication type:
- Article
Surgical management of pediatric Graves' disease: an effective definitive treatment.
- Published in:
- Pediatric Surgery International, 2012, v. 28, n. 6, p. 609, doi. 10.1007/s00383-012-3095-5
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- Publication type:
- Article
Linear growth and puberty in childhood obesity: what is new?
- Published in:
- Minerva Pediatrics, 2021, v. 73, n. 6, p. 563, doi. 10.23736/S2724-5276.21.06543-5
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- Publication type:
- Article
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 5, p. 587, doi. 10.1111/cen.13387
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- Publication type:
- Article