Associated Papers
Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
Simonds WF et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.
Steyaert L et al.
Calcified Tissue International, 2025
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 2024
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
Renal Neoplasia in Hyperparathyroidism-Jaw Tumor Syndrome.
Gupta S et al.
Mayo Clinic Proceedings, 2021
Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.
Mao X et al.
International Journal of Genomics, 2021
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.
Sun W et al.
Scientific Reports, 2017
Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia.
Mathews JW et al.
The American Journal of the Medical Sciences, 2016
Update on parathyroid carcinoma.
Cetani F et al.
Journal of Endocrinological Investigation, 2016
CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer.
Cetani F et al.
Endocrine Connections, 2013
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
Newey PJ et al.
Human Mutation, 2010
Hyperparathyroidism-jaw tumor syndrome: a case report.
Schmidt BP et al.
Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons, 2009
HRPT2 gene analysis and the diagnosis of parathyroid carcinoma.
Cetani F et al.
Expert Review of Endocrinology & Metabolism, 2008
Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.
Marsh DJ et al.
Expert Opinion on Medical Diagnostics, 2007
Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?
Cetani F et al.
European Journal of Endocrinology, 2007
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.
Aldred MJ et al.
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2006
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.
Bradley KJ et al.
Journal of Internal Medicine, 2005
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
Cetani F et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD et al.
Nature Genetics, 2002
Association of empty sella syndrome and primary hyperparathyroidism.
Baker BA et al.
Mayo Clinic Proceedings, 1982