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TITLE: Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
AUTHORS: Fadil M Hannan; Andrew A Nesbit; Chen Zhang; Treena Cranston; Alan J Curley; Brian Harding; Carl Fratter; Nigel Rust; Paul T Christie; Jeremy J O Turner; Manuel C Lemos; Michael R Bowl; Roger Bouillon; Caroline Brain; Nicola Bridges; Christine Burren; John M Connell; Heike K Jung; Eileen Marks; David McCredie; Zulf Mughal; Christine Rodda; Sherida Tollefsen; Edward M Brown; Jenny J Yang; Rajesh V Thakker; ...More
PUBLISHED: 2012, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 21, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 137
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TITLE: Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers
AUTHORS: Manuel C Lemos; Brian Harding; Anita A C Reed; Jeshmi Jeyabalan; Gerard V Walls; Michael R Bowl; James Sharpe; Sarah Wedden; Julie E Moss; Allyson Ross; Duncan Davidson; Rajesh V Thakker;
PUBLISHED: 2009, SOURCE: JOURNAL OF ENDOCRINOLOGY, VOLUME: 203, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 36
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TITLE: Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia
AUTHORS: Brian Harding; Manuel C Lemos; Anita A C Reed; Gerard V Walls; Jeshmi Jeyabalan; Michael R Bowl; Hilda Tateossian; Nicky Sullivan; Tertius Hough; William D Fraser; Olaf Ansorge; Michael T Cheeseman; Rajesh V Thakker;
PUBLISHED: 2009, SOURCE: ENDOCRINE-RELATED CANCER, VOLUME: 16, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 72
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TITLE: Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours  Full Text
AUTHORS: Bradley, KJ; Cavaco, BM ; Bowl, MR; Harding, B; Cranston, T; Fratter, C; Besser, GM; Pereira, MDC; Davie, MWJ; Dudley, N; Leite, V ; Sadler, GP; Seller, A; Thakker, RV;
PUBLISHED: 2006, SOURCE: CLINICAL ENDOCRINOLOGY, VOLUME: 64, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 86
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TITLE: Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
AUTHORS: Bradley, KJ; Cavaco, BM ; Bowl, MR; Harding, B; Young, A; Thakker, RV;
PUBLISHED: 2005, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 42, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef