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.
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.
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.
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.
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.
Hereditary Primary Hyperparathyroidism.
Newey PJ.
Endocrinol Metab Clin North Am. 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003.
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.
Familial hyperparathyroidism.
Takami H, Shirahama S, Ikeda Y, Sasaki Y, Wada N, Niimi M, Kameyama K.
Biomed Pharmacother. 2000 Jun;54 Suppl 1:21s-24s. doi: 10.1016/s0753-3322(00)80006-2.
Familial isolated hyperparathyroidism due to HRPT2 mutation.
Luján D, Sánchez A, Meoro A, Albarracín A, Candel MF.
Endocrinol Diabetes Nutr (Engl Ed). 2018 Oct;65(8):470-472. doi: 10.1016/j.endinu.2018.05.007. Epub 2018 Jun 23.
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK.
Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.
