MEN1 GENE ANALYSIS IN PATIENTS WITH MULTIPLE ENDOCRINE NEOPALSIA TYPE 1 Multiple Endocrine Neoplasia type 1 is an autosomal dominant inherited disorder characterised by the triad of parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas. A clinical diagnosis of MEN1 can be made in a patient with at least two of these three main MEN1-related […]
ViewAIP GENE ANALYSIS IN FAMILIAL ISOLATED PITUITARY ADENOMA Familial Isolated Pituitary Adenoma (FIPA) is an autosomal dominant disease with incomplete penetrance, characterised by early-onset disease, often aggressive tumour growth and a predominance of somatotroph and lactotroph adenomas. Variants in the AIP gene have been reported in approximately 20% of FIPA families (Beckers and Daly 2007 […]
ViewAP2S1, CASR, CDC73, CDKN1B, GNA11, MEN1 AND RET GENE ANALYSIS IN FAMILIAL ISOLATED HYPERPARATHYROIDISM AND FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA Primary hyperparathyroidism is characterised by hypercalcaemia, inappropriately high parathyroid hormone (PTH) levels and isolated parathyroid tumours. Hereditary primary hyperparathyroidism may develop as a solitary endocrinopathy or as part of the Multiple Endocrine Neoplasia type 1 (MEN1) or […]
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