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Last Posted: Mar 14, 2024

• The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism.
  Patrick T Hangge et al. Ann Surg Oncol 2024
• Machine learning-based prediction models for parathyroid carcinoma using pre-surgery cognitive function and clinical features.
  Yuting Wang et al. Sci Rep 2023 13(1) 19007
• A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
  De Sousa Sunita M C et al. Endocrine 2021
• A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.
  Majumdar Sachin K et al. Case reports in endocrinology 2020 20208752610
• Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
  Khairi Shafaq et al. Hormones & cancer 2020 Aug
• Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
  Mariathasan S et al. Clinical endocrinology 2020 May
• Health-related quality of life in patients with Multiple Endocrine Neoplasia type 1.
  van Leeuwaarde Rachel S et al. Neuroendocrinology 2020 May
• Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ?
  Coppin Lucie et al. European journal of endocrinology 2019 Oct
• Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.
  Høxbroe Michaelsen Sanne et al. Journal of surgical oncology 2019 May 119(6) 687-693
• Genetics of parathyroids disorders: Overview.
  Alberto Falchetti et al. Best practice & research. Clinical endocrinology & metabolism 2018 Dec 32(6) 781-790
• Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
  Cristina Eller-Vainicher et al. Best practice & research. Clinical endocrinology & metabolism 2018 Dec 32(6) 861-875
• MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors.
  Vannucci Letizia et al. Endocrine 2018 59(2) 438-448
• Genetic Hypercalcemia.
  Cormier Catherine et al. Joint, bone, spine : revue du rhumatisme 2018 Oct
• CLINGEN Actionability Report for Hyperparathyroidism 2 - HPRT2 - CDC73
  ClinGen Actionability Working Group
• CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type I - MEN1
  ClinGen Actionability Working Group
• Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.
  Giusti Francesca et al. Endocrine 2017 Nov 58(2) 349-359
• Update on multiple endocrine neoplasia Type 1 and 2.
  Al-Salameh Abdallah et al. Presse medicale (Paris, France : 1983) 2018 Jun
• Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.
  El Lakis Mustapha et al. Journal of the American College of Surgeons 2018 Feb
• Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for Multiple Endocrine Neoplasia 1 (MEN-1)?
  
• RET gene abnormalities and thyroid disease: who should be screened and when.
  

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