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Items: 1 to 20 of 209

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.

Borsari S, Pardi E, Pellegata NS, Lee M, Saponaro F, Torregrossa L, Basolo F, Paltrinieri E, Zatelli MC, Materazzi G, Miccoli P, Marcocci C, Cetani F.

Endocrine. 2017 Feb;55(2):386-397. doi: 10.1007/s12020-016-0941-6. Epub 2016 Apr 2.

PMID:
27038812
8.

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
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.

10.

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.

11.

Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas.

Pardi E, Marcocci C, Borsari S, Saponaro F, Torregrossa L, Tancredi M, Raspini B, Basolo F, Cetani F.

J Clin Endocrinol Metab. 2013 Jul;98(7):2800-10. doi: 10.1210/jc.2012-4029. Epub 2013 Apr 30.

PMID:
23633209
12.

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
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;14(2):493-9.

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.

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.

Alvelos MI, Vinagre J, Fonseca E, Barbosa E, Teixeira-Gomes J, Sobrinho-Simões M, Soares P.

Eur J Endocrinol. 2012 Dec 31;168(2):119-28. doi: 10.1530/EJE-12-0327. Print 2013 Feb.

16.

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.

17.

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
18.

Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.

Belar O, De La Hoz C, Pérez-Nanclares G, Castaño L, Gaztambide S; Spanish MEN1 Group.

Clin Endocrinol (Oxf). 2012 May;76(5):719-24. doi: 10.1111/j.1365-2265.2011.04269.x.

PMID:
22026581
19.

MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly.

Filopanti M, Verga U, Ermetici F, Olgiati L, Eller-Vainicher C, Corbetta S, Persani L, Beck-Peccoz P, Spada A.

Eur J Endocrinol. 2012 Aug;167(2):157-64. doi: 10.1530/EJE-12-0117. Epub 2012 May 10.

20.

Genetics of parathyroid tumours.

Thakker RV.

J Intern Med. 2016 Dec;280(6):574-583. doi: 10.1111/joim.12523. Epub 2016 Jun 16. Review.

PMID:
27306766

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