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Page 1
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. Minisola S, et al. J Bone Miner Res. 2022 Nov;37(11):2315-2329. doi: 10.1002/jbmr.4665. Epub 2022 Oct 17. J Bone Miner Res. 2022. PMID: 36245271 Free PMC article. Review.
These may occur as a part of multiple endocrine neoplasia syndromes (MEN1-MEN4), or the hyperparathyroidism jaw-tumor syndrome, or it may be caused by nonsyndromic isolated endocrinopathy, such as familial isolated PHPT and neonatal severe hyperparathy …
These may occur as a part of multiple endocrine neoplasia syndromes (MEN1-MEN4), or the hyperparathyroidism jaw-tumor
Congenital primary hyperparathyroidism.
Marini F, Giusti F, Brandi ML. Marini F, et al. Best Pract Res Clin Endocrinol Metab. 2025 Mar;39(2):101982. doi: 10.1016/j.beem.2025.101982. Epub 2025 Jan 31. Best Pract Res Clin Endocrinol Metab. 2025. PMID: 39939267 Review.
Non-syndromic inherited PHPT includes Familial Hypocalciuric Hypercalcemia types 1, 2 and 3, Neonatal Severe Primary Hyperparathyroidism, and three different genetic forms of Familial Isolated Hyperparathyroidism, while syndromic inherited PHPT includes Hyperparathyroidism
Non-syndromic inherited PHPT includes Familial Hypocalciuric Hypercalcemia types 1, 2 and 3, Neonatal Severe Primary Hyperparathyroidism, an …
Parathyroid carcinoma: molecular therapeutic targets.
Marini F, Giusti F, Palmini G, Aurilia C, Donati S, Brandi ML. Marini F, et al. Endocrine. 2023 Sep;81(3):409-418. doi: 10.1007/s12020-023-03376-w. Epub 2023 May 9. Endocrine. 2023. PMID: 37160841 Review.
Congenital forms of PC have been prevalently associated with germline heterozygous loss-of-function mutations of the CDC73 tumor suppressor gene, both in the context of the hyperparathyroidism jaw-tumor syndrome (HPT-JT) and of the isolat …
Congenital forms of PC have been prevalently associated with germline heterozygous loss-of-function mutations of the CDC73 tumor suppressor …
Heritable hyperparathyroidism: Genetic insights and clinical implications.
Grover A, Jha S. Grover A, et al. Best Pract Res Clin Endocrinol Metab. 2025 Mar;39(2):101984. doi: 10.1016/j.beem.2025.101984. Epub 2025 Mar 1. Best Pract Res Clin Endocrinol Metab. 2025. PMID: 40057424 Free PMC article. Review.
Syndromic forms include multiple endocrine neoplasia (MEN) types 1, 2, 3 and 4, hyperparathyroidism-jaw tumor syndrome, hereditary pheochromocytoma and paraganglioma, and the more recently reported, Birt-Hogg-Dube (BHD) syndrome, and X-linked intellect …
Syndromic forms include multiple endocrine neoplasia (MEN) types 1, 2, 3 and 4, hyperparathyroidism-jaw tumor syndro
Complex Primary Hyperparathyroidism: Hereditary and Recurrent Disease.
Balachandra S, Fazendin J, Chen H. Balachandra S, et al. Surg Clin North Am. 2024 Aug;104(4):811-823. doi: 10.1016/j.suc.2024.02.010. Epub 2024 Mar 23. Surg Clin North Am. 2024. PMID: 38944501 Free PMC article. Review.
Primary hyperparathyroidism can be sporadic or part of a genetic syndrome, such as MEN1 or HPT-JT. Diagnosis of hereditary HPT requires a thorough history and physical. Parathyroidectomy is curative with greater than 95% success. ...
Primary hyperparathyroidism can be sporadic or part of a genetic syndrome, such as MEN1 or HPT-JT. Diagnosis of hereditary HPT …
Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
Simonds WF, Li Y, Jha S. Simonds WF, et al. J Clin Endocrinol Metab. 2025 Mar 17;110(4):931-939. doi: 10.1210/clinem/dgae909. J Clin Endocrinol Metab. 2025. PMID: 39775826 Free PMC article. Review.
The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1, and the hyperparathyroidism-jaw tumor syndrome (HPT-JT) …
The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism incl …
Chapter 6: Syndromic primary hyperparathyroidism.
Al-Salameh A, Haissaguerre M, Tresallet C, Kuczma P, Marciniak C, Cardot-Bauters C. Al-Salameh A, et al. Ann Endocrinol (Paris). 2025 Feb;86(1):101695. doi: 10.1016/j.ando.2025.101695. Epub 2025 Jan 14. Ann Endocrinol (Paris). 2025. PMID: 39818298 Review.
It is often asymptomatic in adolescents and young adults, but may be responsible for recurrent lithiasis and/or bone loss. Hyperparathyroidism-jaw tumor syndrome is less frequent, but often immediately symptomatic, with higher blood calcium levels, and …
It is often asymptomatic in adolescents and young adults, but may be responsible for recurrent lithiasis and/or bone loss. Hyperparathyro
Familial states of primary hyperparathyroidism: an update.
Cetani F, Dinoi E, Pierotti L, Pardi E. Cetani F, et al. J Endocrinol Invest. 2024 Sep;47(9):2157-2176. doi: 10.1007/s40618-024-02366-7. Epub 2024 Apr 18. J Endocrinol Invest. 2024. PMID: 38635114 Review.
The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism-jaw tumor (HPT-JT). The latter consists of familial hypoc …
The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine …
Renal Neoplasia: Rare Subtypes and Uncommon Clinical Presentations.
Gupta S, Cheville JC. Gupta S, et al. Surg Pathol Clin. 2025 Mar;18(1):157-174. doi: 10.1016/j.path.2024.09.001. Epub 2024 Oct 9. Surg Pathol Clin. 2025. PMID: 39890302 Review.
Herein, the authors have discussed a series of uncommon familial kidney cancer syndromes (including hyperparathyroidism-jaw tumor syndrome and PTEN hamartoma tumor syndrome), sporadically occurring tumors (BRAF and MTOR pathway-mutated tumors, and juxt …
Herein, the authors have discussed a series of uncommon familial kidney cancer syndromes (including hyperparathyroidism-jaw
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 hyper …
The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT
26 results