Associated Papers
Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Garrigues G et al.
Molecular Genetics & Genomic Medicine, 2023
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
De Sousa SMC et al.
Endocrine, 2022
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
29142233 (PubMed )
Supplement: 41598_2017_15715_MOESM1_ESM.pdf
Update on parathyroid carcinoma.
Cetani F et al.
Journal of Endocrinological Investigation, 2016
Nontruncated amino-terminal parathyroid hormone overproduction in two patients with parathyroid carcinoma: a possible link to HRPT2 gene inactivation.
Caron P et al.
Clinical Endocrinology, 2011
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
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
Bradley KJ et al.
Journal of Medical Genetics, 2005
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
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
Shattuck TM et al.
The New England Journal of Medicine, 2003
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD et al.
Nature Genetics, 2002
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