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Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations

Endocrine, 2021-01, Vol.71 (1), p.122-129

2021

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Distribution of plasma copeptin levels and influence of obesity in children and adolescents

European journal of pediatrics, 2021-01, Vol.180 (1), p.119-126

2021

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Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism

Endocrine, 2020-02, Vol.67 (2), p.457-465

2020

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Approccio diagnostico-terapeutico della Sindrome di McCune-Albright

L'Endocrinologo, 2021, Vol.22 (Suppl 1), p.48-51

2021

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Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants

Journal of clinical medicine, 2022-09, Vol.11 (19), p.5767

2022

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Perinatal asphyxia and hypothermic treatment from the endocrine perspective

Frontiers in endocrinology (Lausanne), 2023-10, Vol.14, p.1249700-1249700

2023

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Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature

Case reports in endocrinology, 2021, Vol.2021, p.5539349-6

2021

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SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

Italian journal of pediatrics, 2020-11, Vol.46 (1), p.1-163, Article 163

2020

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Tolvaptan Treatment in Children with Chronic Hyponatremia due to Inappropriate Antidiuretic Hormone Secretion: A Report of Three Cases

Journal of clinical research in pediatric endocrinology, 2017-09, Vol.9 (3), p.288-292

2017

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Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

Italian journal of pediatrics, 2021-03, Vol.47 (1), p.48-48, Article 48

2021

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Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism

Endocrine Journal, 2012, Vol.59(6), pp.497-502

2012

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Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study

Children (Basel), 2021-06, Vol.8 (7), p.531

2021

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Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

Italian journal of pediatrics, 2017-10, Vol.43 (1), p.94-94, Article 94

2017

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Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome

Endocrine Journal, 2012, Vol.59(2), pp.111-117

2012

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Copeptin role in polyuria‐polydipsia syndrome differential diagnosis and reference range in paediatric age

Clinical endocrinology (Oxford), 2018-06, Vol.88 (6), p.873-879

2018

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Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome

ENDOCRINE JOURNAL, 2012, Vol.59 (2), p.111-117

2012

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Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome

Genes chromosomes & cancer, 2022-12, Vol.61 (12), p.740-746

2022

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Growth hormone—Insulin‐like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune‐Albright Syndrome

Clinical endocrinology (Oxford), 2018-07, Vol.89 (1), p.56-64

2018

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Five-Year Prospective Evaluation of Thyroid Function Test Evolution in Children with Hashimoto's Thyroiditis Presenting with Either Euthyroidism or Subclinical Hypothyroidism

Thyroid (New York, N.Y.), 2016-10, Vol.26 (10), p.1450

2016

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Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia

European journal of endocrinology, 2024-03, Vol.190 (4), p.296

2024

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Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in Down syndrome children

European journal of endocrinology, 2020-04, Vol.182 (4), p.385

2020

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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

Journal of bone and mineral research, 2018-08, Vol.33 (8), p.1480-1488

2018

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Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome

Hormone research in paediatrics, 2017, Vol.87 (5), p.342-349

2017

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Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome

Journal of pediatric endocrinology & metabolism : JPEM, 2016-03, Vol.29 (3), p.333

2016

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Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations

Distribution of plasma copeptin levels and influence of obesity in children and adolescents

Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism

Approccio diagnostico-terapeutico della Sindrome di McCune-Albright

Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

Perinatal asphyxia and hypothermic treatment from the endocrine perspective

Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature

SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

Tolvaptan Treatment in Children with Chronic Hyponatremia due to Inappropriate Antidiuretic Hormone Secretion: A Report of Three Cases

Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism

Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome

Copeptin role in polyuria‐polydipsia syndrome differential diagnosis and reference range in paediatric age

Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome

Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome

Growth hormone—Insulin‐like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune‐Albright Syndrome

Five-Year Prospective Evaluation of Thyroid Function Test Evolution in Children with Hashimoto's Thyroiditis Presenting with Either Euthyroidism or Subclinical Hypothyroidism

Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia

Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in Down syndrome children

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome

Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome

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