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Items: 1 to 20 of 144

1.
Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment
F. Cetani, E. Pardi, E. Ambrogini, C. Banti, P. Viacava, S. Borsari, J.P. Bilezikian, A. Pinchera, C. Marcocci
J Endocrinol Invest. Author manuscript; available in PMC 2017 Feb 21.
Published in final edited form as: J Endocrinol Invest. 2008 Oct; 31(10): 900–904. doi: 10.1007/BF03346439
PMCID:
PMC5319599
AbstractArticlePDF–528K
2.
Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours
Ana-Maria Gheorghe, Oana-Claudia Sima, Alexandru Florin Florescu, Adrian Ciuche, Claudiu Nistor, Florica Sandru, Mara Carsote
Int J Mol Sci. 2024 Feb; 25(4): 2301. Published online 2024 Feb 15. doi: 10.3390/ijms25042301
PMCID:
PMC10889221
AbstractArticlePDF–761K
3.
A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome
Yian Gu, Yuanyuan Ye, Hua Shu, Lina Chang, Yinghui Xie, Fengao Li, Tiehong Zhu, Ming Liu, Qing He
Front Endocrinol (Lausanne) 2024; 15: 1330185. Published online 2024 Jan 29. doi: 10.3389/fendo.2024.1330185
PMCID:
PMC10859429
AbstractArticlePDF–2.4M
4.
Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome
Rana Tora, James Welch, Jian Sun, Sunita K Agarwal, Debra A Bell, Maria Merino, Lee S Weinstein, William F Simonds, Smita Jha
J Clin Endocrinol Metab. 2023 Dec; 108(12): 3165–3177. Published online 2023 Jun 20. doi: 10.1210/clinem/dgad368
PMCID:
PMC10655532
AbstractArticle
5.
A Novel CDC73 Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney
Vijay Sheker Reddy Danda, Vivek Kyatham, Srinivas Rao Paidipally, Sharmila Palli
JCEM Case Rep. 2023 Jul; 1(4): luad098. Published online 2023 Aug 14. doi: 10.1210/jcemcr/luad098
PMCID:
PMC10580433
AbstractArticlePDF–395K
6.
Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism
Lee F. Starker, Tobias Åkerström, William D. Long, Alberto Delgado-Verdugo, Patricia Donovan, Robert Udelsman, Richard P. Lifton, Tobias Carling
Horm Cancer. 2012 Apr; 3(1-2): 44–51. Published online 2011 Dec 21. doi: 10.1007/s12672-011-0100-8
PMCID:
PMC10358143
AbstractArticlePDF–296K
7.
Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature
Guilhaume Garrigues, Marie Batisse‐Lignier, Nancy Uhrhammer, Maud Privat, Flora Ponelle‐Chachuat, Antony Kelly, Mathilde Gay‐Bellile, Sandrine Viala, Yannick Bidet, Yves‐Jean Bignon, Mathias Cavaillé
Mol Genet Genomic Med. 2023 May; 11(5): e2133. Published online 2023 Jan 14. doi: 10.1002/mgg3.2133
PMCID:
PMC10178793
AbstractArticlePDF–1.3M
8.
Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome
Nurul Inaas Mahamad Apandi, Nor Nazaliza Basri, Ajura Abdul Jalil, Md Arad Jelon
Case Rep Dent. 2023; 2023: 4664619. Published online 2023 Mar 8. doi: 10.1155/2023/4664619
PMCID:
PMC10017210
AbstractArticlePDF–1.6M
9.
A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report
Dun Yang, Jiaoyun Zheng, Fei Tang, Qiongzhi He, Hui Huang, Peng Zhou
Diagn Pathol. 2022; 17: 71. Published online 2022 Sep 24. doi: 10.1186/s13000-022-01248-x
PMCID:
PMC9508707
AbstractArticlePDF–2.3M
10.
Hyperparathyroidism Jaw-Tumor Syndrome: A Case Report From a Radiological View
Muhammad Mehraiz Khan, Huda Fazli, Touseef Bilal Khan, Pooya M Tehrany, Niempa Bacani
Cureus. 2022 Aug; 14(8): e28329. Published online 2022 Aug 23. doi: 10.7759/cureus.28329
PMCID:
PMC9500404
AbstractArticlePDF–736K
11.
USP37 Deubiquitinates CDC73 in HPT-JT Syndrome
Su Yeon Kim, Ji-young Lee, Yun-jung Cho, Kwan Hoon Jo, Eun Sook Kim, Je Ho Han, Kwang-Hyun Baek, Sung-dae Moon
Int J Mol Sci. 2022 Jun; 23(12): 6364. Published online 2022 Jun 7. doi: 10.3390/ijms23126364
PMCID:
PMC9224168
AbstractArticlePDF–4.8M
12.
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome
Monica De Luise, Luisa Iommarini, Lorena Marchio, Greta Tedesco, Camelia Alexandra Coadă, Andrea Repaci, Daniela Turchetti, Maria Lucia Tardio, Nunzio Salfi, Uberto Pagotto, Ivana Kurelac, Anna Maria Porcelli, Giuseppe Gasparre
Cells. 2021 Nov; 10(11): 2920. Published online 2021 Oct 28. doi: 10.3390/cells10112920
PMCID:
PMC8616364
AbstractArticlePDF–7.7M
13.
The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature
Maxim Barnett, Farhan Ahmed, Radu Mihai, Asha Rattan, Malik Asif Humayun
Case Rep Endocrinol. 2021; 2021: 5551203. Published online 2021 May 20. doi: 10.1155/2021/5551203
PMCID:
PMC8159647
AbstractArticlePDF–466K
14.
Hyperparathyroidism-Jaw Tumor Syndrome
Travis D. Weaver, Mohamed K.M. Shakir, Thanh D. Hoang
Case Rep Oncol. 2021 Jan-Apr; 14(1): 29–33. Published online 2021 Feb 18. doi: 10.1159/000510002
PMCID:
PMC7989853
AbstractArticlePDF–420K
15.
Ossifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures
Hazim Mahmoud Ibrahem
J Dent Sci. 2020 Dec; 15(4): 426–432. Published online 2020 Apr 4. doi: 10.1016/j.jds.2019.12.007
PMCID:
PMC7816022
AbstractArticlePDF–350K
16.
Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease
Piyumi S. A. Wijewickrama, Noel P. Somasundaram
Case Rep Endocrinol. 2020; 2020: 9298147. Published online 2020 Mar 16. doi: 10.1155/2020/9298147
PMCID:
PMC7102458
AbstractArticlePDF–841K
17.
HIGH RISK OF PARATHYROID CARCINOMA AND GENETIC SCREENING IN THE FIRST DIAGNOSED ROMANIAN FAMILY WITH HYPERPARATHYROIDISM-JAW TUMOR SYNDROME AND A GERMLINE MUTATION OF THE CDC73 GENE
D. Grigorie, A. Sucaliuc, S. Ciuffi, F. Franceschelli, F. Marini, D. Ioachim, D. Terzea, M.L.L. Brandi
Acta Endocrinol (Buchar) 2019 Jul-Sep; 15(3): 398–403. doi: 10.4183/aeb.2019.398
PMCID:
PMC6992406
AbstractArticlePDF–1.5M
18.
Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature
Francesca Torresan, Maurizio Iacobone
Int J Endocrinol. 2019; 2019: 1761030. Published online 2019 Dec 18. doi: 10.1155/2019/1761030
PMCID:
PMC6935818
AbstractArticlePDF–1.1M
19.
OVARIAN GRANULOSA CELL TUMOR IN A PATIENT WITH A PATHOGENIC VARIANT IN THE CDC73 GENE (HYPERPARATHYROIDISM-JAW TUMOR SYNDROME)
Rowella Licup Sirbiladze, Denise Uyar, Jennifer L. Geurts, Joseph L. Shaker
AACE Clin Case Rep. 2019 May-Jun; 5(3): e222–e225. Published online 2019 Apr 25. doi: 10.4158/ACCR-2018-0555
PMCID:
PMC6876943
AbstractArticlePDF–810K
20.
Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features
Anthony J. Gill, Grace Lim, Veronica K.Y. Cheung, Juliana Andrici, Joanna L. Perry-Keene, Julie Paik, Loretta Sioson, Adele Clarkson, Amy Sheen, Catherine Luxford, Marianne S. Elston, Goswin Y. Meyer-Rochow, M. Teresa Nano, Schelto Kruijff, Anton F. Engelsman, Mark Sywak, Stanley B. Sidhu, Leigh W. Delbridge, Bruce G. Robinson, Deborah J. Marsh, Christopher W. Toon, Angela Chou, Roderick J. Clifton-Bligh
Am J Surg Pathol. 2019 Jan; 43(1): 35–46. Published online 2018 Jan 10. doi: 10.1097/PAS.0000000000001017
PMCID:
PMC6296846
AbstractArticlePDF–633K

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