Objective: Familial isolated primary hyperparathyroidism (FIHP) is defined as hereditary primary hyperparathyroidism without the association of other diseases or tumors. Linkage analyses suggest that different genotypes can lead to the same phenotype of primary hyperparathyroidism. Hereditary syndromes associated with primary hyperparathyroidism are multiple endocrine neoplasia type 1 and type 2 (MEN 1 and MEN 2). In MEN 1, multiple parathyroid adenomas occur in more than 90 % of the patients. Therefore, it has been suggested that FIHP could represent a variant or partial expression of MEN 1. Design: We report on a large FIHP kindred with a MEN1 gene mutation. Nineteen family members (aged 10 to 87 years) were screened. Furthermore, statist...
Abstract OBJECTIVE: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene...
Phenocopies may confound the clinical diagnoses of hereditary disorders. We report phenocopies in Mu...
Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndr...
BACKGROUND: Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder t...
OBJECTIVE: Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete ...
Abstract: OBJECTIVES Familial hyperparathyroidism may occur as part of hereditary syndromes, includi...
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by ...
Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectr...
Objective: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in an Ita...
In this thesis the aim has been to identify and characterise gene(s) involved in familial primary hy...
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by ...
Purpose: Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% ...
Introduction: Mutation testing for the MEN1 gene is a useful method to diagnose and predict individu...
Individuals with a familial predisposition to the development of parathyroid tumors constitute a sma...
The purpose of this study it was to evaluate the frequency of Multiple Endocrine Neoplasia type 1 (M...
Abstract OBJECTIVE: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene...
Phenocopies may confound the clinical diagnoses of hereditary disorders. We report phenocopies in Mu...
Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndr...
BACKGROUND: Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder t...
OBJECTIVE: Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete ...
Abstract: OBJECTIVES Familial hyperparathyroidism may occur as part of hereditary syndromes, includi...
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by ...
Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectr...
Objective: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in an Ita...
In this thesis the aim has been to identify and characterise gene(s) involved in familial primary hy...
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by ...
Purpose: Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% ...
Introduction: Mutation testing for the MEN1 gene is a useful method to diagnose and predict individu...
Individuals with a familial predisposition to the development of parathyroid tumors constitute a sma...
The purpose of this study it was to evaluate the frequency of Multiple Endocrine Neoplasia type 1 (M...
Abstract OBJECTIVE: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene...
Phenocopies may confound the clinical diagnoses of hereditary disorders. We report phenocopies in Mu...
Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndr...