Associated Papers
Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
Simonds WF et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Primary hyperparathyroidism in children: Insights from a single-center cohort.
Alexandrino H et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2025
Analyzing Genetic Differences Between Sporadic Primary and Secondary/Tertiary Hyperparathyroidism by Targeted Next-Generation Panel Sequencing.
Hong YA et al.
Endocrine Pathology, 2021
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.
Clarke CN et al.
Journal of the Endocrine Society, 2019
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Update on parathyroid carcinoma.
Cetani F et al.
Journal of Endocrinological Investigation, 2016
CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors.
Hahn MA et al.
Endocrine-related Cancer, 2010
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
The effect of disease-associated HRPT2 mutations on splicing.
Hahn MA et al.
The Journal of Endocrinology, 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
Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.
Bradley KJ et al.
Oncogene, 2007
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.
Howell VM et al.
The Journal of Molecular Diagnostics : Jmd, 2006
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD et al.
Nature Genetics, 2002
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