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Items: 1 to 20 of 148

1.

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

Howell VM, Cardinal JW, Richardson AL, Gimm O, Robinson BG, Marsh DJ.

J Mol Diagn. 2006 Nov;8(5):559-66.

2.

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.

3.

Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

Karges W, Jostarndt K, Maier S, Flemming A, Weitz M, Wissmann A, Feldmann B, Dralle H, Wagner P, Boehm BO.

J Endocrinol. 2000 Jul;166(1):1-9.

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.

PMID:
16817812
5.

Genetic defects associated with familial and sporadic hyperparathyroidism.

Hendy GN, Cole DE.

Front Horm Res. 2013;41:149-65. doi: 10.1159/000345675. Epub 2013 Mar 19.

PMID:
23652676
6.

Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.

Uchino S, Noguchi S, Sato M, Yamashita H, Yamashita H, Watanabe S, Murakami T, Toda M, Ohshima A, Futata T, Mizukoshi T, Koike E, Takatsu K, Terao K, Wakiya S, Nagatomo M, Adachi M.

Cancer Res. 2000 Oct 1;60(19):5553-7.

7.

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
8.

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.

PMID:
16430712
9.

Familial isolated primary hyperparathyroidism due to HRPT2 mutation.

Ghemigian A, Ghemigian M, Popescu I, Vija L, Petrova E, Dumitru N, Dumitru I.

Hormones (Athens). 2013 Jul-Sep;12(3):454-60.

10.

Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.

Starker LF, Akerström T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, Lifton RP, Carling T.

Horm Cancer. 2012 Apr;3(1-2):44-51. doi: 10.1007/s12672-011-0100-8.

PMID:
22187299
11.

MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1.

Balogh K, Hunyady L, Patocs A, Gergics P, Valkusz Z, Toth M, Racz K.

Clin Endocrinol (Oxf). 2007 Nov;67(5):727-34.

PMID:
17953629
12.

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.

13.

Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.

Haven CJ, van Puijenbroek M, Tan MH, Teh BT, Fleuren GJ, van Wezel T, Morreau H.

Clin Endocrinol (Oxf). 2007 Sep;67(3):370-6. Epub 2007 Jun 6.

PMID:
17555500
14.

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Vierimaa O, Villablanca A, Alimov A, Georgitsi M, Raitila A, Vahteristo P, Larsson C, Ruokonen A, Eloranta E, Ebeling TM, Ignatius J, Aaltonen LA, Leisti J, Salmela PI.

J Endocrinol Invest. 2009 Jun;32(6):512-8. doi: 10.3275/6107. Epub 2009 Mar 26.

PMID:
19474519
15.

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).

Marx SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Emmert-Buck MR, Debelenko LV, Lubensky IA, Zhuang Z, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Doppman JL, Alexander RH, Liotta LA, Collins FS, Chandrasekharappa SC, Spiegel AM, Burns AL.

J Intern Med. 1998 Jun;243(6):447-53.

16.

Molecular pathogenesis of primary hyperparathyroidism.

Cetani F, Pardi E, Borsari S, Marcocci C.

J Endocrinol Invest. 2011 Jul;34(7 Suppl):35-9. Review.

PMID:
21985978
17.

Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13.

Dwight T, Twigg S, Delbridge L, Wong FK, Farnebo F, Richardson AL, Nelson A, Zedenius J, Philips J, Larsson C, Teh BT, Robinson B.

Clin Endocrinol (Oxf). 2000 Jul;53(1):85-92.

PMID:
10931084
18.

Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.

Scarpelli D, D'Aloiso L, Arturi F, Scillitani A, Presta I, Bisceglia M, Cristofaro C, Russo D, Filetti S.

J Endocrinol Invest. 2004 Dec;27(11):1015-21.

PMID:
15754732
19.

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV.

Clin Endocrinol (Oxf). 2003 May;58(5):639-46.

PMID:
12699448
20.

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;14(2):493-9.

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