Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing
Authors
Keywords
-
Journal
ENDOCRINE PATHOLOGY
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-05-29
DOI
10.1007/s12022-020-09631-4
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Clinical Features of Multiple Endocrine Neoplasia Type 4 - Novel pathogenic variant and review of published cases
- (2019) Anja Frederiksen et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Multiple endocrine neoplasia: an update
- (2019) Jane E. McDonnell et al. INTERNAL MEDICINE JOURNAL
- Neonatal Severe Hyperparathyroidism: Novel Insights from Calcium, PTH, and the CASR Gene
- (2019) Stephen J Marx et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features
- (2018) Anthony J. Gill et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing
- (2018) Kenji Koikawa et al. INTERNAL MEDICINE
- Management of familial Hyperparathyroid syndromes: MEN1, MEN2, HPT-Jaw tumour, FHH, neonatal severe hyperparathyroidism, familial isolated hyperparathyroidism’
- (2018) Eller-Vainicher Cristina et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Genetics of parathyroids disorders: overview
- (2018) Falchetti Alberto BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- MEN4 and CDKN1B mutations: the latest of the MEN syndromes
- (2017) Rami Alrezk et al. ENDOCRINE-RELATED CANCER
- Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms
- (2017) Carole Guerin et al. ENDOCRINE-RELATED CANCER
- Heritable forms of primary hyperparathyroidism: a current perspective
- (2017) Ronald A DeLellis et al. HISTOPATHOLOGY
- CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
- (2017) Karin van der Tuin et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism
- (2017) Vince Kornél Grolmusz et al. VIRCHOWS ARCHIV
- GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism
- (2016) Bin Guan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences
- (2016) Rosa Vargas-Poussou et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Genetics of parathyroid tumours
- (2016) R. V. Thakker JOURNAL OF INTERNAL MEDICINE
- Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis
- (2016) Fadil M Hannan et al. JOURNAL OF MOLECULAR ENDOCRINOLOGY
- Parathyroid morphology and menin staining in multiple endocrine neoplasia type 1 (MEN 1)
- (2016) L. Prentice et al. PATHOLOGY
- Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature
- (2016) Ioannis Christakis et al. International Journal of Surgery
- Variability in penetrance of multiple endocrine neoplasia 2A with amino acid substitutions in RET codon 634
- (2015) Andreas Machens et al. CLINICAL ENDOCRINOLOGY
- GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts
- (2015) Bernhard Mayr et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Whole-Exome Sequencing Studies of Parathyroid Carcinomas Reveal NovelPRUNE2Mutations, Distinctive Mutational Spectra Related to APOBEC-Catalyzed DNA Mutagenesis and Mutational Enrichment in Kinases Associated With Cell Migration and Invasion
- (2015) Willie Yu et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Clinicopathological correlates of hyperparathyroidism
- (2015) Kai Duan et al. JOURNAL OF CLINICAL PATHOLOGY
- Modern Experience with Aggressive Parathyroid Tumors in a High-Volume New England Referral Center
- (2015) Courtney E. Quinn et al. JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS
- Hereditary hyperparathyroidism—a consensus report of the European Society of Endocrine Surgeons (ESES)
- (2015) Maurizio Iacobone et al. LANGENBECKS ARCHIVES OF SURGERY
- MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics
- (2015) Marie Helene Schernthaner-Reiter et al. NEUROENDOCRINOLOGY
- Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
- (2015) Samuel A. Wells et al. THYROID
- Diagnosis and preoperative imaging of multiple endocrine neoplasia type 2: current status and future directions
- (2014) David Taïeb et al. CLINICAL ENDOCRINOLOGY
- Understanding the Genetic Basis of Parathyroid Carcinoma
- (2014) Anthony J. Gill ENDOCRINE PATHOLOGY
- A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome
- (2014) Francesco Tonelli et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature
- (2014) Carlos del Pozo et al. Hormones-International Journal of Endocrinology and Metabolism
- Codon Arg15 Mutations of theAP2S1Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (CASR) Mutations
- (2014) Geoffrey N. Hendy et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for Multiple Endocrine Neoplasia 1 (MEN-1)?
- (2014) T. Lassen et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization
- (2014) Giulia Masi et al. PLoS One
- Hyperparathyroidism-jaw tumor syndrome: Results of operative management
- (2014) Amit Mehta et al. SURGERY
- Negative Parafibromin Staining Predicts Malignant Behavior in Atypical Parathyroid Adenomas
- (2013) Schelto Kruijff et al. ANNALS OF SURGICAL ONCOLOGY
- Differentiating Familial Hypocalciuric Hypercalcemia from Primary Hyperparathyroidism
- (2013) Myrick Shinall et al. Endocrine Practice
- Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
- (2013) Rajesh V. Thakker MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
- (2013) M. Andrew Nesbit et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
- (2012) M Andrew Nesbit et al. NATURE GENETICS
- Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet
- (2011) Christina M. S. Reh et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Parathyroid tumors and related disorders
- (2011) Ronald A DeLellis MODERN PATHOLOGY
- Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours
- (2011) C. Christofer Juhlin et al. VIRCHOWS ARCHIV
- HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
- (2010) Leticia G. Silveira et al. Arquivos Brasileiros de Endocrinologia e Metabologia
- Multiple endocrine neoplasia type 1 (MEN1)
- (2010) Rajesh V. Thakker BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- MEN1 in pancreatic endocrine tumors: analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases
- (2010) Vincenzo Corbo et al. ENDOCRINE-RELATED CANCER
- Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
- (2010) Karin Frank-Raue et al. HUMAN MUTATION
- p27kip1: A New Multiple Endocrine Neoplasia Gene?
- (2010) Ilaria Marinoni et al. NEUROENDOCRINOLOGY
- Hyperparathyroidism–jaw tumor syndrome: a report of three large kindred
- (2009) Maurizio Iacobone et al. LANGENBECKS ARCHIVES OF SURGERY
- Challenging Lesions in the Differential Diagnosis of Endocrine Tumors: Parathryoid Carcinoma
- (2008) Ronald A. DeLellis ENDOCRINE PATHOLOGY
- Accuracy of Combined Protein Gene Product 9.5 and Parafibromin Markers for Immunohistochemical Diagnosis of Parathyroid Carcinoma
- (2008) Viive M. Howell et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started