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Items: 1 to 20 of 126

1.

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.

Frank-Raue K, Haag C, Schulze E, Keuser R, Raue F, Dralle H, Lorenz K.

Eur J Endocrinol. 2011 Sep;165(3):477-83. doi: 10.1530/EJE-11-0003. Epub 2011 Jun 7.

2.

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.

Siu WK, Law CY, Lam CW, Mak CM, Wong GW, Ho AY, Ho KY, Loo KT, Chiu SC, Chow LT, Tong SF, Chan AY.

Fam Cancer. 2011 Dec;10(4):695-9. doi: 10.1007/s10689-011-9466-6.

PMID:
21732217
3.

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.

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.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

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.

12.

A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.

Chiofalo MG, Sparaneo A, Chetta M, Franco R, Baorda F, Cinque L, Granatiero M, D'Agruma L, Pezzullo L, Scillitani A, Guarnieri V.

Cell Oncol (Dordr). 2014 Aug;37(4):281-8. doi: 10.1007/s13402-014-0187-3. Epub 2014 Aug 12.

PMID:
25113791
13.

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
14.

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
15.

[Hyperparathyroidism-jaw tumor syndrome. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma].

Raue F, Haag Ch, Frank-Raue K.

Dtsch Med Wochenschr. 2007 Jul 29;132(27):1459-62. German.

PMID:
17583828
16.

CDC73-Related Disorders.

Jackson MA, Rich TA, Hu MI, Perrier ND, Waguespack SG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Dec 31 [updated 2015 Jan 15].

17.

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.

18.

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.

19.

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
20.

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
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