Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 462

1.

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.

Mizusawa N, Uchino S, Iwata T, Tsuyuguchi M, Suzuki Y, Mizukoshi T, Yamashita Y, Sakurai A, Suzuki S, Beniko M, Tahara H, Fujisawa M, Kamata N, Fujisawa K, Yashiro T, Nagao D, Golam HM, Sano T, Noguchi S, Yoshimoto K.

Clin Endocrinol (Oxf). 2006 Jul;65(1):9-16.

PMID:
16817812
2.

Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism.

Cetani F, Pardi E, Giovannetti A, Vignali E, Borsari S, Golia F, Cianferotti L, Viacava P, Miccoli P, Gasperi M, Pinchera A, Marcocci C.

Clin Endocrinol (Oxf). 2002 Apr;56(4):457-64.

PMID:
11966738
3.

Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.

Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C.

Clin Endocrinol (Oxf). 2006 Feb;64(2):146-52.

PMID:
16430712
4.

Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation.

Kelly TG, Shattuck TM, Reyes-Mugica M, Stewart AF, Simonds WF, Udelsman R, Arnold A, Carpenter TO.

J Bone Miner Res. 2006 Oct;21(10):1666-71.

5.

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.

Masi G, Barzon L, Iacobone M, Viel G, Porzionato A, Macchi V, De Caro R, Favia G, Palù G.

Endocr Relat Cancer. 2008 Dec;15(4):1115-26. doi: 10.1677/ERC-08-0066. Epub 2008 Aug 28.

6.

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A.

N Engl J Med. 2003 Oct 30;349(18):1722-9.

7.

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV.

Clin Endocrinol (Oxf). 2003 May;58(5):639-46.

PMID:
12699448
8.

Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.

Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, Ambrogini E, Gazzerro E, Colussi G, Berti P, Miccoli P, Pinchera A, Marcocci C.

J Clin Endocrinol Metab. 2004 Nov;89(11):5583-91.

PMID:
15531515
9.

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J.

J Med Genet. 2004 Mar;41(3):155-60.

10.

Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

Kong J, Wang O, Nie M, Shi J, Hu Y, Jiang Y, Li M, Xia W, Meng X, Xing X.

Clin Endocrinol (Oxf). 2014 Aug;81(2):222-30. doi: 10.1111/cen.12461. Epub 2014 May 6.

PMID:
24716902
11.

Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome.

Wassif WS, Farnebo F, Teh BT, Moniz CF, Li FY, Harrison JD, Peters TJ, Larsson C, Harris P.

Clin Endocrinol (Oxf). 1999 Feb;50(2):191-6.

PMID:
10396361
12.

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

Cascón A, Huarte-Mendicoa CV, Javier Leandro-García L, Letón R, Suela J, Santana A, Costa MB, Comino-Méndez I, Landa I, Sánchez L, Rodríguez-Antona C, Cigudosa JC, Robledo M.

Genes Chromosomes Cancer. 2011 Nov;50(11):922-9. doi: 10.1002/gcc.20911. Epub 2011 Aug 11.

PMID:
21837707
13.

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ.

J Clin Endocrinol Metab. 2004 Jan;89(1):96-102.

PMID:
14715834
14.

Genetic defects associated with familial and sporadic hyperparathyroidism.

Hendy GN, Cole DE.

Front Horm Res. 2013;41:149-65. doi: 10.1159/000345675. Epub 2013 Mar 19.

PMID:
23652676
15.

Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism.

Domingues R, Tomaz RA, Martins C, Nunes C, Bugalho MJ, Cavaco BM.

Clin Endocrinol (Oxf). 2012 Jan;76(1):33-8. doi: 10.1111/j.1365-2265.2011.04184.x.

PMID:
21790700
16.

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.

Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306.

PMID:
16487440
17.

Molecular pathogenesis of primary hyperparathyroidism.

Cetani F, Pardi E, Borsari S, Marcocci C.

J Endocrinol Invest. 2011 Jul;34(7 Suppl):35-9. Review.

PMID:
21985978
18.

Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

Karges W, Jostarndt K, Maier S, Flemming A, Weitz M, Wissmann A, Feldmann B, Dralle H, Wagner P, Boehm BO.

J Endocrinol. 2000 Jul;166(1):1-9.

19.

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.

Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H, Teh BT.

J Med Genet. 2003 Sep;40(9):657-63. Erratum in: J Med Genet. 2004 Jan;41(1):20.

20.

Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13.

Dwight T, Twigg S, Delbridge L, Wong FK, Farnebo F, Richardson AL, Nelson A, Zedenius J, Philips J, Larsson C, Teh BT, Robinson B.

Clin Endocrinol (Oxf). 2000 Jul;53(1):85-92.

PMID:
10931084

Supplemental Content

Support Center