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Items: 1 to 20 of 109

1.

Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism.

Carrasco CA, González AA, Carvajal CA, Campusano C, Oestreicher E, Arteaga E, Wohllk N, Fardella CE.

J Clin Endocrinol Metab. 2004 Aug;89(8):4124-9.

PMID:
15292357
2.

New splicing mutation of MEN1 gene affecting the translocation of menin to the nucleus.

Tala HP, Carvajal CA, González AA, Garrido JL, Tobar J, Solar A, Campino C, Arteaga E, Fardella CE.

J Endocrinol Invest. 2006 Nov;29(10):888-93.

PMID:
17185897
3.

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
4.

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
5.

A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.

Honda M, Tsukada T, Tanaka H, Maruyama K, Yamaguchi K, Obara T, Yamaji T, Ishibashi M.

Eur J Endocrinol. 2000 Feb;142(2):138-43.

6.

Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?

Miedlich S, Lohmann T, Schneyer U, Lamesch P, Paschke R.

Eur J Endocrinol. 2001 Aug;145(2):155-60. Review.

7.

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV.

Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8.

PMID:
18084346
8.

Germline mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in a family with primary hyperparathyroidism.

Ohye H, Sato M, Matsubara S, Miyauchi A, Imachi H, Murao K, Takahara J.

Endocr J. 1998 Dec;45(6):719-23.

9.

Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.

Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Park JH, Moon SD, Park JG.

Clin Genet. 2003 Jul;64(1):48-53.

PMID:
12791038
10.

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.

PMID:
14715834
11.

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.

12.

Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia.

Watanabe T, Tsukamoto F, Shimizu T, Sugimoto T, Taguchi T, Nishisho I, Nakazawa H, Shiba E, Shishiba Y, Takai S.

Endocr J. 1998 Oct;45(5):637-46. Review.

PMID:
10395244
13.

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.

PMID:
24716902
14.

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J.

J Med Genet. 2004 Mar;41(3):155-60.

15.

Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Ii S, Moritani M, Yamaoka T, Itakura M.

J Clin Endocrinol Metab. 1998 Mar;83(3):960-5.

PMID:
9506756
16.

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

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

Hum Mol Genet. 1997 Jul;6(7):1169-75.

PMID:
9215689
17.

A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism.

Nagamura Y, Yamazaki M, Shimazu S, Sano K, Tsukada T, Sakurai A.

Endocr J. 2012;59(6):523-30.

18.

Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism.

Frank-Raue K, Rondot S, Hoeppner W, Goretzki P, Raue F, Meng W.

J Clin Endocrinol Metab. 2005 Jul;90(7):4063-7. Erratum in: J Clin Endocrinol Metab. 2005 Oct;90(10):5575.

PMID:
15870131
19.

Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

Shimazu S, Nagamura Y, Yaguchi H, Ohkura N, Tsukada T.

Cancer Sci. 2011 Nov;102(11):2097-102. doi: 10.1111/j.1349-7006.2011.02055.x.

20.

Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

Villablanca A, Wassif WS, Smith T, Höög A, Vierimaa O, Kassem M, Dwight T, Forsberg L, Du Q, Learoyd D, Jones K, Stranks S, Juhlin C, Teh BT, Carling T, Robinson B, Larsson C.

Eur J Endocrinol. 2002 Sep;147(3):313-22.

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