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Page 1
Hereditary Primary Hyperparathyroidism.
Newey PJ. Newey PJ. Endocrinol Metab Clin North Am. 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. Endocrinol Metab Clin North Am. 2021. PMID: 34774240 Review.
Familial and Hereditary Forms of Primary Hyperparathyroidism.
Cetani F, Saponaro F, Borsari S, Marcocci C. Cetani F, et al. Front Horm Res. 2019;51:40-51. doi: 10.1159/000491037. Epub 2018 Nov 19. Front Horm Res. 2019. PMID: 30641519 Review.
They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT. ...
They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial iso …
Genetics of parathyroid tumours.
Thakker RV. Thakker RV. J Intern Med. 2016 Dec;280(6):574-583. doi: 10.1111/joim.12523. Epub 2016 Jun 16. J Intern Med. 2016. PMID: 27306766 Free article. Review.
Nonsyndromic PHPT, which may be hereditary and referred to as familial isolated hyperparathyroidism, may also be due to MEN1, CDC73 or calcium-sensing receptor (CASR) mutations. ...
Nonsyndromic PHPT, which may be hereditary and referred to as familial isolated hyperparathyroidism, may also be due to …
GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A. Vincze S, et al. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e2021-e2026. doi: 10.1210/clinem/dgab929. J Clin Endocrinol Metab. 2022. PMID: 34967908
Germline missense variants of GCM2, a regulator of parathyroid development, were observed in familial isolated hyperparathyroidism and sporadic PHPT. However, as these previously reported GCM2 variants occur at relatively high frequencies in the population, u …
Germline missense variants of GCM2, a regulator of parathyroid development, were observed in familial isolated hyperparathy …
Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.
Marx SJ, Lourenço DM Jr. Marx SJ, et al. Horm Metab Res. 2017 Nov;49(11):805-815. doi: 10.1055/s-0043-120670. Epub 2017 Nov 14. Horm Metab Res. 2017. PMID: 29136674 Review.
Twenty percent develop parathyroid cancer. It is predisposed by inactivating mutation in CDC73. 6) Familial isolated hyperparathyroidism causes multiple parathyroid tumors. ...
Twenty percent develop parathyroid cancer. It is predisposed by inactivating mutation in CDC73. 6) Familial isolated hyperp …
Genetics of hereditary forms of primary hyperparathyroidism.
English KA, Lines KE, Thakker RV. English KA, et al. Hormones (Athens). 2024 Mar;23(1):3-14. doi: 10.1007/s42000-023-00508-9. Epub 2023 Dec 1. Hormones (Athens). 2024. PMID: 38038882 Free PMC article. Review.
The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hy …
The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) s …
Genetics of monogenic disorders of calcium and bone metabolism.
Newey PJ, Hannan FM, Wilson A, Thakker RV. Newey PJ, et al. Clin Endocrinol (Oxf). 2022 Oct;97(4):483-501. doi: 10.1111/cen.14644. Epub 2021 Dec 21. Clin Endocrinol (Oxf). 2022. PMID: 34935164 Free PMC article. Review.
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park HS, Lee YH, Hong N, Won D, Rhee Y. Park HS, et al. Front Endocrinol (Lausanne). 2022 Apr 28;13:853171. doi: 10.3389/fendo.2022.853171. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35586626 Free PMC article. Review.
Interestingly, we identified one GCM2 variant (c.1162A>G [p.Lys388Glu]) and five APC variants that were previously reported in familial isolated hyperparathyroidism, benign sporadic PHPT, and parathyroid cancer. ...
Interestingly, we identified one GCM2 variant (c.1162A>G [p.Lys388Glu]) and five APC variants that were previously reported in familia …
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. Guan B, et al. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745835 Free PMC article.
Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. ...
Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part …
Sporadic and hereditary primary hyperparathyroidism.
Pepe J, Cipriani C, Pilotto R, De Lucia F, Castro C, Lenge L, Russo S, Guarnieri V, Scillitani A, Carnevale V, D'Erasmo E, Romagnoli E, Minisola S. Pepe J, et al. J Endocrinol Invest. 2011 Jul;34(7 Suppl):40-4. J Endocrinol Invest. 2011. PMID: 21985979 Review.
Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including: multiple endocrine neoplasia (MEN) type 1, MEN type 2A, MEN4, benign familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, hyperparathyroidism-jaw tumor s …
Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including: multiple endocrine neoplasia (MEN) …
42 results