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Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

PloS one, 2017-10, Vol.12 (10), p.e0186485-e0186485

2017

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A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature

Endocrine, 2020-02, Vol.67 (2), p.466-472

2020

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Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome

Frontiers in endocrinology (Lausanne), 2023-07, Vol.14, p.1191040-1191040

2023

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The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma

Frontiers in endocrinology (Lausanne), 2022-05, Vol.13, p.869006-869006

2022

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Approccio diagnostico all’adenoma paratiroideo atipico

L'Endocrinologo, 2022, Vol.23 (Suppl 1), p.7-9

2022

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Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene

Frontiers in endocrinology (Lausanne), 2022-08, Vol.13

2022

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Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations Occur Rarely in Sporadic Parathyroid Adenomas

The journal of clinical endocrinology and metabolism, 2013-07, Vol.98 (7), p.2800-2810

2013

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Vitamin D measurement and effect on outcome in a cohort of patients with heart failure

Endocrine Connections, 2018-09, Vol.7 (9), p.957-964

2018

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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion

Case reports in endocrinology, 2020, Vol.2020 (2020), p.1-7

2020

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Dynamics of long-term anhydrobiotic survival of lichen-dwelling tardigrades

Hydrobiologia, 2006-03, Vol.558 (1), p.23-30

2006

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Approach to the Patient With Parathyroid Carcinoma

The journal of clinical endocrinology and metabolism, 2023-12, Vol.109 (1), p.256-268

2023

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Whole-exome sequencing of atypical parathyroid tumors detects novel and common genes linked to parathyroid tumorigenesis

The journal of clinical endocrinology and metabolism, 2024-06

2024

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Long-term efficacy and safety of rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant

The journal of clinical endocrinology and metabolism, 2022-08, Vol.107 (8), p.e3159-e3166

2022

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Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review

European journal of endocrinology, 2022-02, Vol.186 (2), p.137-149

2022

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Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up?

The journal of clinical endocrinology and metabolism, 2021-11, Vol.106 (11), p.e4565-e4579

2021

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Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?

The journal of clinical endocrinology and metabolism, 2021-03, Vol.106 (3), p.708-717

2021

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Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications

The journal of clinical endocrinology and metabolism, 2021-08, Vol.106 (8), p.e3005-e3020

2021

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Hypomagnesuria is Associated With Nephrolithiasis in Patients With Asymptomatic Primary Hyperparathyroidism

The journal of clinical endocrinology and metabolism, 2020-08, Vol.105 (8), p.e2789-e2795

2020

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Gene expression profile in metastatic and non-metastatic parathyroid carcinoma

Endocrine-related cancer, 2021-02, Vol.28 (2), p.111-134

2021

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Il recettore del calcio nella patologia paratiroidea

L'Endocrinologo, 2019, Vol.20 (5), p.303-306

2019

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Parathyroid Carcinoma and Adenoma Co-existing in One Patient: Case Report and Comparative Proteomic Analysis

Cancer genomics & proteomics, 2021-11, Vol.18 (6), p.781-796

2021

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Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas

Endocrine, 2017-02, Vol.55 (2), p.386-397

2017

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Clinical profile of juvenile primary hyperparathyroidism: a prospective study

Endocrine, 2018-02, Vol.59 (2), p.344-352

2018

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Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?

European journal of endocrinology, 2007-05, Vol.156 (5), p.547-554

2007

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Genetic Analyses of the HRPT2 Gene in Primary Hyperparathyroidism: Germline and Somatic Mutations in Familial and Sporadic Parathyroid Tumors

The journal of clinical endocrinology and metabolism, 2004-11, Vol.89 (11), p.5583-5591

2004

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Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature

Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome

The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma

Approccio diagnostico all’adenoma paratiroideo atipico

Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene

Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations Occur Rarely in Sporadic Parathyroid Adenomas

Vitamin D measurement and effect on outcome in a cohort of patients with heart failure

A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion

Dynamics of long-term anhydrobiotic survival of lichen-dwelling tardigrades

Approach to the Patient With Parathyroid Carcinoma

Whole-exome sequencing of atypical parathyroid tumors detects novel and common genes linked to parathyroid tumorigenesis

Long-term efficacy and safety of rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review

Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up?

Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?

Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications

Hypomagnesuria is Associated With Nephrolithiasis in Patients With Asymptomatic Primary Hyperparathyroidism

Gene expression profile in metastatic and non-metastatic parathyroid carcinoma

Il recettore del calcio nella patologia paratiroidea

Parathyroid Carcinoma and Adenoma Co-existing in One Patient: Case Report and Comparative Proteomic Analysis

Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas

Clinical profile of juvenile primary hyperparathyroidism: a prospective study

Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?

Genetic Analyses of the HRPT2 Gene in Primary Hyperparathyroidism: Germline and Somatic Mutations in Familial and Sporadic Parathyroid Tumors

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