416 related articles for article (PubMed ID: 23293331)
1. 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;
J Clin Endocrinol Metab; 2013 Feb; 98(2):E403-8. PubMed ID: 23293331
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 24716902
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 25511968
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16817812
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15531515
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 21790700
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 21837707
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 18755853
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16995822
[TBL] [Abstract][Full Text] [Related]
10. 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; 349(18):1722-9. PubMed ID: 14585940
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 24889687
[TBL] [Abstract][Full Text] [Related]
12. 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; 18(1):83. PubMed ID: 28774260
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 16430712
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 14715834
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 19529956
[TBL] [Abstract][Full Text] [Related]
16. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.
Aldred MJ; Talacko AA; Savarirayan R; Murdolo V; Mills AE; Radden BG; Alimov A; Villablanca A; Larsson C
Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2006 Feb; 101(2):212-8. PubMed ID: 16448924
[TBL] [Abstract][Full Text] [Related]
17. 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; 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. PubMed ID: 12434154
[TBL] [Abstract][Full Text] [Related]
18. 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; 102(12):4534-4540. PubMed ID: 29040582
[TBL] [Abstract][Full Text] [Related]
19. [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; 132(27):1459-62. PubMed ID: 17583828
[TBL] [Abstract][Full Text] [Related]
20. [Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].
Frank-Raue K; Leidig-Bruckner G; Lorenz A; Rondot S; Haag C; Schulze E; Büchler M; Raue F
Dtsch Med Wochenschr; 2011 Sep; 136(38):1889-94. PubMed ID: 21915802
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
