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Items: 1 to 20 of 113

1.

Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.

Agarwal SK, Mateo CM, Marx SJ.

J Clin Endocrinol Metab. 2009 May;94(5):1826-34. doi: 10.1210/jc.2008-2083. Epub 2009 Jan 13. Erratum in: J Clin Endocrinol Metab. 2009 Jul;94(7):2674.

2.

The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.

Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ.

J Clin Endocrinol Metab. 2007 May;92(5):1948-51. Epub 2007 Feb 13.

PMID:
17299066
3.

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Mäkinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gündogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P, Aaltonen LA.

J Clin Endocrinol Metab. 2007 Aug;92(8):3321-5. Epub 2007 May 22.

PMID:
17519308
5.

Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations.

Igreja S, Chahal HS, Akker SA, Gueorguiev M, Popovic V, Damjanovic S, Burman P, Wass JA, Quinton R, Grossman AB, Korbonits M.

Clin Endocrinol (Oxf). 2009 Feb;70(2):259-64. doi: 10.1111/j.1365-2265.2008.03379.x. Epub 2008 Aug 15.

PMID:
18710468
6.

Germline and somatic mutations in cyclin-dependent kinase inhibitor genes CDKN1A, CDKN2B, and CDKN2C in sporadic parathyroid adenomas.

Costa-Guda J, Soong CP, Parekh VI, Agarwal SK, Arnold A.

Horm Cancer. 2013 Oct;4(5):301-7. doi: 10.1007/s12672-013-0147-9. Epub 2013 May 29.

PMID:
23715670
7.

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.

Longuini VC, Lourenço DM Jr, Sekiya T, Meirelles O, Goncalves TD, Coutinho FL, Francisco G, Osaki LH, Chammas R, Alves VA, Siqueira SA, Schlesinger D, Naslavsky MS, Zatz M, Duarte YA, Lebrão ML, Gama P, Lee M, Molatore S, Pereira MA, Jallad RS, Bronstein MD, Cunha-Neto MB, Liberman B, Fragoso MC, Toledo SP, Pellegata NS, Toledo RA.

Eur J Endocrinol. 2014 Sep;171(3):335-42. doi: 10.1530/EJE-14-0130. Epub 2014 Jun 11.

8.

A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome.

Tonelli F, Giudici F, Giusti F, Marini F, Cianferotti L, Nesi G, Brandi ML.

Eur J Endocrinol. 2014 Aug;171(2):K7-K17. doi: 10.1530/EJE-14-0080. Epub 2014 May 12.

9.

Attenuated expression of menin and p27 (Kip1) in an aggressive case of multiple endocrine neoplasia type 1 (MEN1) associated with an atypical prolactinoma and a malignant pancreatic endocrine tumor.

Ishida E, Yamada M, Horiguchi K, Taguchi R, Ozawa A, Shibusawa N, Hashimoto K, Satoh T, Yoshida S, Tanaka Y, Yokota M, Tosaka M, Hirato J, Yamada S, Yoshimoto Y, Mori M.

Endocr J. 2011;58(4):287-96. Epub 2011 Mar 25.

10.

Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype.

Malanga D, De Gisi S, Riccardi M, Scrima M, De Marco C, Robledo M, Viglietto G.

Eur J Endocrinol. 2012 Mar;166(3):551-60. doi: 10.1530/EJE-11-0929. Epub 2011 Nov 30.

11.

Haploinsufficient and predominant expression of multiple endocrine neoplasia type 1 (MEN1)-related genes, MLL, p27Kip1 and p18Ink4C in endocrine organs.

Taguchi R, Yamada M, Horiguchi K, Tomaru T, Ozawa A, Shibusawa N, Hashimoto K, Okada S, Satoh T, Mori M.

Biochem Biophys Res Commun. 2011 Nov 18;415(2):378-83. doi: 10.1016/j.bbrc.2011.10.077. Epub 2011 Oct 21.

PMID:
22037578
12.
13.

Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias.

Marx SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Skarulis MC, James LA, Goldsmith PK, Saggar SK, Park SY, Spiegel AM, Burns AL, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree J, Erdos MR, Collins FS, Chandrasekharappa SC.

Recent Prog Horm Res. 1999;54:397-438; discussion 438-9. Review.

PMID:
10548885
14.

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio MR, degli Uberti EC, Zatelli MC, Pellegata NS.

Hum Mutat. 2010 Nov;31(11):E1825-35. doi: 10.1002/humu.21354.

15.

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
16.

No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1).

Namihira H, Sato M, Matsubara S, Ohye H, Bhuiyan M, Murao K, Takahara J.

Endocr J. 1999 Dec;46(6):811-6.

17.

A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a Japanese MEN1 patient and her daughter.

Ohye H, Sato M, Matsubara S, Miyauchi A, Kishi-Imai K, Murao K, Takahara J.

Endocr J. 1999 Apr;46(2):325-9.

18.

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

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

Hum Mutat. 1998;12(2):75-82.

PMID:
9671267
19.

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.

20.

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

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