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Items: 1 to 20 of 110

1.

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.

Nat Genet. 2002 Dec;32(4):676-80. Epub 2002 Nov 18.

PMID:
12434154
2.

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
3.

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
4.

Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review.

Parfitt J, Harris M, Wright JM, Kalamchi S.

J Oral Maxillofac Surg. 2015 Jan;73(1):194.e1-9. doi: 10.1016/j.joms.2014.09.008. Epub 2014 Sep 28. Review.

PMID:
25511968
5.

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.

6.

Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.

Bricaire L, Odou MF, Cardot-Bauters C, Delemer B, North MO, Salenave S, Vezzosi D, Kuhn JM, Murat A, Caron P, Sadoul JL, Silve C, Chanson P, Barlier A, Clauser E, Porchet N, Groussin L; GTE Group.

J Clin Endocrinol Metab. 2013 Feb;98(2):E403-8. doi: 10.1210/jc.2012-2789. Epub 2013 Jan 4. Erratum in: J Clin Endocrinol Metab. 2013 Apr;98(4):1766.

PMID:
23293331
7.

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
8.

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.

9.

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.

Moon SD, Park JH, Kim EM, Kim JH, Han JH, Yoo SJ, Yoon KH, Kang MI, Lee KW, Son HY, Kang SK, Oh SJ, Kim KM, Yoon SJ, Park JG, Kim IJ, Kang HC, Hong SW, Kim KR, Cha BY.

J Clin Endocrinol Metab. 2005 Feb;90(2):878-83. Epub 2004 Dec 21.

PMID:
15613436
10.

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.

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

Langenbecks Arch Surg. 2009 Sep;394(5):817-25. doi: 10.1007/s00423-009-0511-y. Epub 2009 Jun 16.

PMID:
19529956
11.

Loss of parafibromin expression in a subset of parathyroid adenomas.

Juhlin C, Larsson C, Yakoleva T, Leibiger I, Leibiger B, Alimov A, Weber G, Höög A, Villablanca A.

Endocr Relat Cancer. 2006 Jun;13(2):509-23.

12.

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
13.

Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.

Lee JY, Kim SY, Mo EY, Kim ES, Han JH, Maeng LS, Lee AH, Eun JW, Nam SW, Moon SD.

Int J Oncol. 2014 Aug;45(2):641-50. doi: 10.3892/ijo.2014.2477. Epub 2014 May 29.

PMID:
24889687
14.

Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.

Hobbs MR, Pole AR, Pidwirny GN, Rosen IB, Zarbo RJ, Coon H, Heath H 3rd, Leppert M, Jackson CE.

Am J Hum Genet. 1999 Feb;64(2):518-25.

15.

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.

J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52.

PMID:
15070940
16.

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Newey PJ, Bowl MR, Cranston T, Thakker RV.

Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188.

PMID:
20052758
17.

Hyperparathyroidism-jaw tumor syndrome: Results of operative management.

Mehta A, Patel D, Rosenberg A, Boufraqech M, Ellis RJ, Nilubol N, Quezado MM, Marx SJ, Simonds WF, Kebebew E.

Surgery. 2014 Dec;156(6):1315-24; discussion 1324-5. doi: 10.1016/j.surg.2014.08.004. Epub 2014 Oct 16.

18.
19.

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.

20.

Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses.

Cavaco BM, Santos R, Félix A, Carvalho D, Lopes JM, Domingues R, Sirgado M, Rei N, Fonseca F, Santos JR, Sobrinho L, Leite V.

Endocr Pathol. 2011 Mar;22(1):44-52. doi: 10.1007/s12022-011-9151-1.

PMID:
21360064
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