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651 related items for PubMed ID: 16817812

  • 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. PubMed ID: 16817812
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 4. 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
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  • 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. PubMed ID: 14585940
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  • 6. 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 30; 89(11):5583-91. PubMed ID: 15531515
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  • 9. 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 30; 89(1):96-102. PubMed ID: 14715834
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  • 10. Genetic defects associated with familial and sporadic hyperparathyroidism.
    Hendy GN, Cole DE.
    Front Horm Res; 2013 Jan 30; 41():149-65. PubMed ID: 23652676
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  • 11. 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 30; 76(1):33-8. PubMed ID: 21790700
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  • 12. Molecular pathogenesis of primary hyperparathyroidism.
    Cetani F, Pardi E, Borsari S, Marcocci C.
    J Endocrinol Invest; 2011 Jul 30; 34(7 Suppl):35-9. PubMed ID: 21985978
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  • 13. Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation.
    Cetani F, Pardi E, Ambrogini E, Viacava P, Borsari S, Lemmi M, Cianferotti L, Miccoli P, Pinchera A, Arnold A, Marcocci C.
    Endocr Relat Cancer; 2007 Jun 30; 14(2):493-9. PubMed ID: 17639062
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  • 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 30; 64(3):299-306. PubMed ID: 16487440
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  • 15. 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 30; 56(4):457-64. PubMed ID: 11966738
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  • 18. 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 30; 40(9):657-63. PubMed ID: 12960210
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  • 19. 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 30; 73(1):194.e1-9. PubMed ID: 25511968
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  • 20. [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. PubMed ID: 17583828
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