• Publications
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Guidelines for diagnosis and therapy of MEN type 1 and type 2.
This is a consensus statement from an international group, mostly of clinical endocrinologists. MEN1 and MEN2 are hereditary cancer syndromes. The commonest tumors secrete PTH or gastrin in MEN1, andExpand
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  • Open Access
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
OBJECTIVE The aim was to provide guidelines for evaluation, treatment, and genetic testing for multiple endocrine neoplasia type 1 (MEN1). PARTICIPANTS The group, which comprised 10 experts,Expand
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  • Open Access
Gastroenteropancreatic neuroendocrine tumours.
Gastroenteropancreatic (GEP) neuroendocrine tumours (NETs) are fairly rare neoplasms that present many clinical challenges. They secrete peptides and neuroamines that cause distinct clinicalExpand
  • 1,272
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  • Open Access
Guidelines for the management of thyroid cancer
  • 483
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  • Open Access
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome
We report here the identification of a gene associated with the hyperparathyroidism–jaw tumor (HPT–JT) syndrome. A single locus associated with HPT–JT (HRPT2) was previously mapped to chromosomalExpand
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Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of tumors of the parathyroids, pancreas, and anterior pituitary. The MEN1 gene, which wasExpand
  • 433
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  • Open Access
Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs)
These guidelines update previous guidance published in 2005. They have been revised by a group who are members of the UK and Ireland Neuroendocrine Tumour Society with endorsement from the clinicalExpand
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  • Open Access
GATA3 haplo-insufficiency causes human HDR syndrome
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. Studies in patients withExpand
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A common molecular basis for three inherited kidney stone diseases
KIDNEY stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients1,2 and are most commonly associated with hypercalciuria1. ThreeExpand
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Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
  • R. Thakker
  • Biology, Medicine
  • Molecular and Cellular Endocrinology
  • 5 April 2014
Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Four major forms of MEN, which are autosomal dominantExpand
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