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familial isolated hyperparathyroidism相关文献:
Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.
Minisola S, Arnold A, Belaya Z, Brandi ML, Clarke BL, Hannan FM, Hofbauer LC, Insogna KL, Lacroix A, Liberman U, Palermo A, Pepe J, Rizzoli R, Wermers R, Thakker RV.
J Bone Miner Res. 2022 Nov;37(11):2315-2329. doi: 10.1002/jbmr.4665. Epub 2022 Oct 17.
PMID:36245271
New Concepts About Familial Isolated Hyperparathyroidism.
Marx SJ.
J Clin Endocrinol Metab. 2019 Sep 1;104(9):4058-4066. doi: 10.1210/jc.2018-02789.
PMID:30848815
Hypercalcemic Disorders in Children.
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV.
J Bone Miner Res. 2017 Nov;32(11):2157-2170. doi: 10.1002/jbmr.3296. Epub 2017 Nov 2.
PMID:28914984
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. doi: 10.1530/eje.0.1450155.
PMID:11454510
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ.
Medicine (Baltimore). 2002 Jan;81(1):1-26. doi: 10.1097/00005792-200201000-00001.
PMID:11807402
Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
Cristina EV, Alberto F.
Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):861-875. doi: 10.1016/j.beem.2018.09.010. Epub 2018 Sep 28.
PMID:30665551
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E.
Surgery. 2018 Jan;163(1):31-34. doi: 10.1016/j.surg.2017.04.027. Epub 2017 Nov 3.
PMID:29108698
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.
Szalat A, Shpitzen S, Pollack R, Mazeh H, Durst R, Meiner V.
Front Endocrinol (Lausanne). 2023 Dec 7;14:1254156. doi: 10.3389/fendo.2023.1254156. eCollection 2023.
PMID:38130397
Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregossa L, Oppo A, Marcocci C.
J Endocrinol Invest. 2020 Feb;43(2):231-245. doi: 10.1007/s40618-019-01107-5. Epub 2019 Sep 5.
PMID:31486992
Primary Hyperparathyroidism.
Masi L.
Front Horm Res. 2019;51:1-12. doi: 10.1159/000491034. Epub 2018 Nov 19.
PMID:30641515
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