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Items: 1 to 20 of 299

1.

CDC73-Related Disorders.

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

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Dec 31 [updated 2015 Jan 15].

2.

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
3.

Multiple Endocrine Neoplasia Type 1.

Giusti F, Marini F, Brandi ML.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Aug 31 [updated 2017 Dec 14].

4.

Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.

Shibata Y, Yamazaki M, Takei M, Uchino S, Sakurai A, Komatsu M.

Endocr J. 2015;62(7):627-32. doi: 10.1507/endocrj.EJ15-0057. Epub 2015 May 8.

5.

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
6.

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.

Bellido V, Larrañaga I, Guimón M, Martinez-Conde R, Eguia A, Perez de Nanclares G, Castaño L, Gaztambide S.

Endocr Pathol. 2016 Jun;27(2):142-6. doi: 10.1007/s12022-016-9427-6.

PMID:
26995009
7.

Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome.

Mele M, Rolighed L, Jespersen M, Rejnmark L, Christiansen P.

Int J Endocrinol Metab. 2016 Apr 23;14(2):e35424. doi: 10.5812/ijem.35424. eCollection 2016 Apr.

8.

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

van der Tuin K, Tops CMJ, Adank MA, Cobben JM, Hamdy NAT, Jongmans MC, Menko FH, van Nesselrooij BPM, Netea-Maier RT, Oosterwijk JC, Valk GD, Wolffenbuttel BHR, Hes FJ, Morreau H.

J Clin Endocrinol Metab. 2017 Dec 1;102(12):4534-4540. doi: 10.1210/jc.2017-01249.

PMID:
29040582
9.

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC.

BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0. Erratum in: BMC Med Genet. 2017 Sep 13;18(1):99.

10.

Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome.

Walls GV, Stevenson M, Lines KE, Newey PJ, Reed AAC, Bowl MR, Jeyabalan J, Harding B, Bradley KJ, Manek S, Chen J, Wang P, Williams BO, Teh BT, Thakker RV.

Oncogene. 2017 Jul 13;36(28):4025-4036. doi: 10.1038/onc.2017.43. Epub 2017 Mar 13.

11.

Hyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion.

Rubinstein JC, Majumdar SK, Laskin W, Lazaga F, Prasad ML, Carling T, Khan SA.

J Endocr Soc. 2017 May 25;1(7):926-930. doi: 10.1210/js.2016-1089. eCollection 2017 Jul 1.

12.

HRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA.

Khadilkar KS, Budyal SR, Kasliwal R, Lila AR, Bandgar T, Shah NS.

Endocr Pract. 2015 Sep;21(9):1010-6. doi: 10.4158/EP15648.OR. Epub 2015 Jun 29.

PMID:
26121439
13.

Multiple Endocrine Neoplasia Type 2.

Marquard J, Eng C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Sep 27 [updated 2015 Jun 25].

14.

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
15.

Hyper Parathyroidisim Jaw Tumor Syndrome: A Rare Condition of Incongruous Features.

Redwin Dhas MP, Karthiga KS, Tatu JE, Eugenia SJ.

Ethiop J Health Sci. 2017 May;27(3):309-313.

16.

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
17.

Von Hippel-Lindau Syndrome.

Frantzen C, Klasson TD, Links TP, Giles RH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 May 17 [updated 2015 Aug 6].

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.

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.

20.

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

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