Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia-Reference-Cited by-同舟云学术

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Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia

Published:2017-02-07 Issue:3 Volume:55 Page:741-747
ISSN:1355-008X
Container-title:Endocrine
language:en
Short-container-title:Endocrine

Author:

Szalat Auryan,Shpitzen Shoshana,Tsur Anat,Zalmon Koren Ilana,Shilo Shmuel,Tripto-Shkolnik Liana,Durst Ronen,Leitersdorf Eran,Meiner Vardiella

Funder

Research Foundation of the Chief Scientist at the Israel Ministry of Health

Israel Endocrine Society

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s12020-017-1241-5.pdf

Reference29 articles.

1. R. Eastell, M.L. Brandi, A.G. Costa, P. D’Amour, D.M. Shoback, R.V. Thakker, Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. J. Clin. Endocrinol. Metab. 99(10), 3570–3579 (2014)

2. R.V. Thakker, Genetics of parathyroid tumours. J. Intern. Med. (2016) 280(6), 574–583

3. J. Varghese, T. Rich, C. Jimenez, Benign familial hypocalciuric hypercalcemia. Endocr. Pract. 17(Suppl 1), 13–17 (2011)

4. M.A. Nesbit, F.M. Hannan, S.A. Howles, V.N. Babinsky, R.A. Head, T. Cranston, N. Rust, M.R. Hobbs, H. Heath 3rd, R.V. Thakker, Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N. Eng. J. Med. 368(26), 2476–2486 (2013)

5. M.A. Nesbit, F.M. Hannan, S.A. Howles, A.A. Reed, T. Cranston, C.E. Thakker, L. Gregory, A.J. Rimmer, N. Rust, U. Graham, P.J. Morrison, S.J. Hunter, M.P. Whyte, G. McVean, D. Buck, R.V. Thakker, Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat. Genet. 45(1), 93–97 (2013)

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3. GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism;Frontiers in Endocrinology;2023-12-07

4. Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia;Endocrine;2023-10-30

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