Cavaco BM - Search Results

1

Genomic profiling reveals mutational landscape in parathyroid carcinomas.

Pandya C, Uzilov AV, Bellizzi J, Lau CY, Moe AS, Strahl M, Hamou W, Newman LC, Fink MY, Antipin Y, Yu W, Stevenson M, Cavaco BM, Teh BT, Thakker RV, Morreau H, Schadt EE, Sebra R, Li SD, Arnold A, Chen R. Pandya C, et al. Among authors: cavaco bm. JCI Insight. 2017 Mar 23;2(6):e92061. doi: 10.1172/jci.insight.92061. JCI Insight. 2017. PMID: 28352668 Free PMC article.

2

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

Williamson C, Cavaco BM, Jauch A, Dixon PH, Forbes S, Harding B, Holtgreve-Grez H, Schoell B, Pereira MC, Font AP, Loureiro MM, Sobrinho LG, Santos MA, Thakker RV. Williamson C, et al. Among authors: cavaco bm. J Bone Miner Res. 1999 Feb;14(2):230-9. doi: 10.1359/jbmr.1999.14.2.230. J Bone Miner Res. 1999. PMID: 9933477 Free article.

3

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions.

Cavaco BM, Domingues R, Bacelar MC, Cardoso H, Barros L, Gomes L, Ruas MM, Agapito A, Garrão A, Pannett AA, Silva JL, Sobrinho LG, Thakker RV, Leite V. Cavaco BM, et al. Clin Endocrinol (Oxf). 2002 Apr;56(4):465-73. doi: 10.1046/j.1365-2265.2002.01505.x. Clin Endocrinol (Oxf). 2002. PMID: 11966739

4

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

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, Höög A, Heath H 3rd, 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. Carpten JD, et al. Among authors: cavaco bm. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154

5

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos MA, Sobrinho LG, Thakker RV, Leite V. Cavaco BM, et al. J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52. doi: 10.1210/jc.2003-031016. J Clin Endocrinol Metab. 2004. PMID: 15070940

6

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

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. Bradley KJ, et al. Among authors: cavaco bm. J Intern Med. 2005 Jan;257(1):18-26. doi: 10.1111/j.1365-2796.2004.01421.x. J Intern Med. 2005. PMID: 15606373 Free article.

7

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Young A, Thakker RV. Bradley KJ, et al. Among authors: cavaco bm. J Med Genet. 2005 Aug;42(8):e51. doi: 10.1136/jmg.2005.032201. J Med Genet. 2005. PMID: 16061557 Free PMC article.

8

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceição Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV. Bradley KJ, et al. Among authors: cavaco bm. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. doi: 10.1111/j.1365-2265.2006.02460.x. Clin Endocrinol (Oxf). 2006. PMID: 16487440

9

Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.

Yu W, McPherson JR, Stevenson M, van Eijk R, Heng HL, Newey P, Gan A, Ruano D, Huang D, Poon SL, Ong CK, van Wezel T, Cavaco B, Rozen SG, Tan P, Teh BT, Thakker RV, Morreau H. Yu W, et al. J Clin Endocrinol Metab. 2015 Feb;100(2):E360-4. doi: 10.1210/jc.2014-3238. Epub 2014 Nov 11. J Clin Endocrinol Metab. 2015. PMID: 25387265

10

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.

Cavaco BM, Barros L, Pannett AA, Ruas L, Carvalheiro M, Ruas MM, Krausz T, Santos MA, Sobrinho LG, Leite V, Thakker RV. Cavaco BM, et al. QJM. 2001 Apr;94(4):213-22. doi: 10.1093/qjmed/94.4.213. QJM. 2001. PMID: 11294964

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