Show simple item record

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

dc.contributor.authorBradley, K. J.en_US
dc.contributor.authorHobbs, M. R.en_US
dc.contributor.authorBuley, I. D.en_US
dc.contributor.authorCarpten, J. D.en_US
dc.contributor.authorCavaco, B. M.en_US
dc.contributor.authorFares, J. E.en_US
dc.contributor.authorLaidler, P.en_US
dc.contributor.authorManek, S.en_US
dc.contributor.authorRobbins, C. M.en_US
dc.contributor.authorSalti, I. S.en_US
dc.contributor.authorThompson, N. W.en_US
dc.contributor.authorJackson, C. E.en_US
dc.contributor.authorThakker, R. V.en_US
dc.date.accessioned2010-06-01T21:37:22Z
dc.date.available2010-06-01T21:37:22Z
dc.date.issued2005-01en_US
dc.identifier.citationBRADLEY, K. J.; HOBBS, M. R.; BULEY, I. D.; CARPTEN, J. D.; CAVACO, B. M.; FARES, J. E.; LAIDLER, P.; MANEK, S.; ROBBINS, C. M.; SALTI, I. S.; THOMPSON, N. W.; JACKSON, C. E.; THAKKER, R. V. (2005). "Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome." Journal of Internal Medicine 257(1): 18-26. <http://hdl.handle.net/2027.42/74672>en_US
dc.identifier.issn0954-6820en_US
dc.identifier.issn1365-2796en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/74672
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15606373&dopt=citationen_US
dc.format.extent176296 bytes
dc.format.extent3109 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Science Ltden_US
dc.rights2005 Blackwell Publishing Ltden_US
dc.subject.otherBone Tumoursen_US
dc.subject.otherHRPT2 Mutationsen_US
dc.subject.otherKidney Cystsen_US
dc.subject.otherParathyroid Canceren_US
dc.titleUterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndromeen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Surgery, University of Michigan, School of Medicine, Ann Arbor, MI, USAen_US
dc.contributor.affiliationotherAcademic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UKen_US
dc.contributor.affiliationotherDivision of Endocrinology, Metabolism, and Diabetes, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USAen_US
dc.contributor.affiliationotherDepartment of Cellular Pathology, John Radcliffe Hospital, Oxford, UKen_US
dc.contributor.affiliationotherTranslational Genomics Research Institute, Tempe, AZ, USAen_US
dc.contributor.affiliationotherCentro de Investiga o de Patobiologia Molecular, Instituto Portugu s de Oncologia de Francisco Gentil, Rua Professor Lima Basto, Lisboa, Portugalen_US
dc.contributor.affiliationotherDivision of Endocrinology and Metabolism, Department of Internal Medicine, American University Hospital, Beirut, Lebanonen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Wales College of Medicine, Cardiff, UKen_US
dc.contributor.affiliationotherDepartment of Medicine, Scott and White Memorial Hospital, Temple, TX, USAen_US
dc.identifier.pmid15606373en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/74672/1/j.1365-2796.2004.01421.x.pdf
dc.identifier.doi10.1111/j.1365-2796.2004.01421.xen_US
dc.identifier.sourceJournal of Internal Medicineen_US
dc.identifier.citedreferenceJackson CE, Norum RA, Boyd SB et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 1990; 108: 1006 12; discussion 1012 3.en_US
dc.identifier.citedreferenceSzabo J, Heath B, Hill VM et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21 q31. Am J Hum Genet 1995; 56: 944 50.en_US
dc.identifier.citedreferenceTeh BT, Farnebo F, Kristoffersson U et al. Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21 q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 1996; 81: 4204 11.en_US
dc.identifier.citedreferenceTeh BT, Farnebo F, Twigg S et al. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21 q32 in a subset of families. J Clin Endocrinol Metab 1998; 83: 2114 20.en_US
dc.identifier.citedreferenceCavaco BM, Barros L, Pannett AA et al. The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 2001; 94: 213 22.en_US
dc.identifier.citedreferenceMarx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000; 343: 1863 75.en_US
dc.identifier.citedreferenceMarx SJ, Simonds WF, Agarwal SK et al. Hyperparathyroidism in hereditary syndromes: special expressions and special managements. J Bone Miner Res 2002; 17 ( Suppl. 2 ): N37 43.en_US
dc.identifier.citedreferenceHobbs MR, Pole AR, Pidwirny GN et al. Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. Am J Hum Genet 1999; 64: 518 25.en_US
dc.identifier.citedreferenceHaven CJ, Wong FK, van Dam EW et al. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2000; 85: 1449 54.en_US
dc.identifier.citedreferenceWilliamson C, Cavaco BM, Jauch A et al. Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22 q31. J Bone Miner Res 1999; 14: 230 9.en_US
dc.identifier.citedreferenceSimonds WF, James-Newton LA, Agarwal SK et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore) 2002; 81: 1 26.en_US
dc.identifier.citedreferenceWassif WS, Moniz CF, Friedman E et al. Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab 1993; 77: 1485 9.en_US
dc.identifier.citedreferenceSimonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2004; 89: 96 102.en_US
dc.identifier.citedreferenceWarner J, Epstein M, Sweet A et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 2004; 41: 155 60.en_US
dc.identifier.citedreferenceCarpten JD, Robbins CM, Villablanca A et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002; 32: 676 80.en_US
dc.identifier.citedreferenceHowell VM, Haven CJ, Kahnoski K et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 2003; 40: 657 63.en_US
dc.identifier.citedreferenceShattuck TM, Valimaki S, Obara T et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003; 349: 1722 9.en_US
dc.identifier.citedreferenceCavaco BM, Guerra L, Bradley KJ et al. Hyperparathyroidism (HPT)-jaw tumour syndrome in Roma families from Portugal is due to a founder mutation in the HRPT2 gene. J Clin Endocrinol Metab 2004; 89: 1747 52.en_US
dc.identifier.citedreferenceSuh JY, Lee YT, Park CB, Lee KH, Kim SC, Choi BS. Structural and functional implications of a proline residue in the antimicrobial peptide gaegurin. Eur J Biochem 1999; 266: 665 74.en_US
dc.identifier.citedreferenceKnudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971; 68: 820 3.en_US
dc.identifier.citedreferenceFrayha RA, Nassar VH, Dagher F, Salti IS. Familial parathyroid carcinoma. J Med Liban 1972; 25: 299 309.en_US
dc.identifier.citedreferenceAllo M, Thompson NW. Familial hyperparathyroidism caused by solitary adenomas. Surgery 1982; 92: 486 90.en_US
dc.identifier.citedreferenceJackson CE, Talbert PC, Caylor HD. Hereditary hyperparathyroidism. Indiana State Med Assoc 1960; 53: 1313 6.en_US
dc.identifier.citedreferenceJackson CE. Hereditary hyperparathyroidism associated with recurrent pancreatitis. Ann Intern Med 1958; 49: 829 36.en_US
dc.identifier.citedreferenceMallette LE, Malini S, Rappaport MP, Kirkland JL. Familial cystic parathyroid adenomatosis. Ann Intern Med 1987; 107: 54 60.en_US
dc.identifier.citedreferenceLaw WM Jr, Hodgson SF, Heath H III. Autosomal recessive inheritance of familial hyperparathyroidism. N Engl J Med 1983; 309: 650 3.en_US
dc.identifier.citedreferenceFirat D, Stutzman L. Fibrous dysplasia of the bone. Review of twenty-four cases. Am J Med 1968; 44: 421 9.en_US
dc.identifier.citedreferencePannett AA, Kennedy AM, Turner JJ et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 2003; 58: 639 46.en_US
dc.identifier.citedreferenceFujikawa M, Okamura K, Sato K et al. Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. Eur J Endocrinol 1998; 138: 557 61.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.