11
TITLE: A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1  Full Text
AUTHORS: Manuel C Lemos ; Brian Harding; Stephen M Shalet; Rajesh V Thakker;
PUBLISHED: 2007, SOURCE: CLINICAL ENDOCRINOLOGY, VOLUME: 66, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 8
12
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
13
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
14
TITLE: Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome  Full Text
AUTHORS: Bradley, KJ; Hobbs, MR; Buley, ID; Carpten, JD; Cavaco, BM ; Fares, JE; Laidler, P; Manek, S; Robbins, CM; Salti, IS; Thompson, NW; Jackson, CE; Thakker, RV;
PUBLISHED: 2005, SOURCE: JOURNAL OF INTERNAL MEDICINE, VOLUME: 257, ISSUE: 1
INDEXED IN: Scopus WOS
15
TITLE: A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis
AUTHORS: Lemos, MC; Kotanko, P; Christie, PT; Harding, B; Javor, T; Smith, C; Eastell, R; Thakker, RV;
PUBLISHED: 2005, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 90, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 15
16
TITLE: Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene
AUTHORS: Cavaco, BM ; Guerra, L; Bradley, KJ; Carvalho, D ; Harding, B; Oliveira, A; Santos, MA; Sobrinho, LG; Thakker, RV; Leite, V ;
PUBLISHED: 2004, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 89, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 53
17
TITLE: Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism  Full Text
AUTHORS: Pannett, AAJ; Kennedy, AM; Turner, JJO; Forbes, SA; Cavaco, BM ; Bassett, JHD; Cianferotti, L; Harding, B; Shine, B; Flinter, F; Maidment, CGH; Trembath, R; Thakker, RV;
PUBLISHED: 2003, SOURCE: Clinical Endocrinology, VOLUME: 58, ISSUE: 5
INDEXED IN: Scopus CrossRef
18
TITLE: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome  Full Text
AUTHORS: Carpten, JD; Robbins, CM; Villablanca, A; Forsberg, L; Presciuttini, S; Bailey Wilson, J; Simonds, WF; Gillanders, EM; Kennedy, AM; Chen, JD; Agarwal, SK; Sood, R; Jones, MP; Moses, TY; Haven, C; Petillo, D; Leotlela, PD; Harding, B; Cameron, D; Pannett, AA; Hoog, A; Heath, H; James Newton, LA; Robinson, B; Zarbo, RJ; Cavaco, BM ; Wassif, W; Perrier, ND; Rosen, IB; Kristoffersson, U; Turnpenny, PD; Farnebo, LO; Besser, GM; Jackson, CE; Morreau, H; Trent, JM; Thakker, RV; Marx, SJ; Teh, BT; Larsson, C; Hobbs, MR; ...More
PUBLISHED: 2002, SOURCE: NATURE GENETICS, VOLUME: 32, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
19
TITLE: Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions  Full Text
AUTHORS: Cavaco, BM ; Domingues, R; Bacelar, MC; Cardoso, H; Barros, L; Gomes, L; Ruas, MMA; Agapito, A; Garrao, A; Pannett, AAJ; Silva, JL; Sobrinho, LG; Thakker, RV; Leite, V ;
PUBLISHED: 2002, SOURCE: CLINICAL ENDOCRINOLOGY, VOLUME: 56, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
20
TITLE: The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred
AUTHORS: Cavaco, BM ; Barros, L; Pannett, AAJ; Ruas, L; Carvalheiro, M; Ruas, MMA; Krausz, T; Santos, MA; Sobrinho, LG; Leite, V ; Thakker, RV;
PUBLISHED: 2001, SOURCE: QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS, VOLUME: 94, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
Page 2 of 3. Total results: 21.