Treating microsatellite unstable metastatic parathyroid carcinoma with anti-PD1 therapy.

How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.

[Multiple endocrine neoplasia syndrome type 1: analysis of data from 102 patients from 43 families in the population of the Russian Federation].

Pediatric Hepatocyte Nuclear Factor 1B (HNF1B) Disease: Diabetes and Endocrine Manifestations.

Hyperparathyroidism drives periodontitis progression via parathyroid hormone-induced endoplasmic reticulum stress.

GRHL2/SENP1/VDR Signaling Axis: A Key Regulator of SUMOylation and Calcitriol Resistance in SHPT.

Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.

Multiple endocrine neoplasia type 1 with MEN1 c.652C>T (p.Arg218Trp): variant reclassified to likely pathogenic.

Severe pediatric hypocalcemia in Vietnam: etiologic profile, clinical outcomes and risk factors in 246 cases.

Rare RET Variants in a Patient With MEN2A and Multiple Follicular-Derived Thyroid Tumors: A Case Report and Review of the Literature.

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.

Multiple endocrine neoplasia type 5: emerging evidence and clinical perspectives.

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.

Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.

H3-3A gene mutation analysis in giant cell tumor of bone and its histologic mimics: A single institutional study from India.

[18F]Fluorocholine PET/CT in a 15-year-old patient suggested HPT-JT syndrome with active cemento-ossifying fibroma.

Basal Ganglia Calcifications for Nephrologists: Fahr/Primary Familial Brain Calcification (PFBC) at the Interface of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) and Hypoparathyroidism.

Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variant.

Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.

Targeted Next-Generation Sequencing of MEN 1, RET, CDC 73, and CDKNIB Genes in Familial Primary Hyperparathyroidism: A Study from Northern India.

Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.

Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review.

CYP24A1: the pivotal regulator of vitamin D homeostasis, pathophysiology in metabolic and genetic disease, and emerging target for precision medicine.

Burosumab in adults with X-linked hypophosphatemia: real-world experience from a retrospective study in Sydney.

Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.

The predictive value of 24-hour urinary calcium for kidney stone risk in primary hyperparathyroidism: insight from a retrospective study of parathyroid adenoma cases.

Refractory hypercalcemic crisis: A case of primary hyperparathyroidism with Gitelman syndrome.

A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in the CYP24A1 Gene.

[The 514th case: urinary stone excretion, elevated blood glucose, pancreatic mass,and co-secretion of multiple hormones].

Case Report: Novel likely pathogenic MEN1 mosaic mutation in the family with MEN-1 syndrome.

Dysregulated neutrophils contribute to bone loss in renal osteodystrophy by enhancing osteoclastogenesis: Insights from integrated bioinformatics and experimental validation.

A Hypercalcemic Deception: Uncovering an Unusual Case of Familial Hypocalciuric Hypercalcemia.

Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation.

EndoCompass Project: Research Roadmap for Calcium and Bone Endocrinology.

Double Parathyroid Carcinoma Associated With CDC73 Mutation: A Rare Case.

MicroRNA-874-3p is a Potential Contributor to Primary Hyperparathyroidism-Induced Osteoporosis.

[The single centre experience - from Recklinghausen to the present].

The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study.

Role of MEN1 mutations on postoperative outcomes of patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: a single center experience.

Precision stratified treatment of primary hyperparathyroidism based on multilevel emerging biomarkers.

Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.

Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6.

Vitamin D Deficiency as a Debatable Modulator of Outcomes in Transfusion-Dependent Thalassemia; An Overview of the Latest Findings: A Narrative Review.

Atypical Parathyroid Tumor and Hyperparathyroidism, and Their Association With the CDC73 Mutation in a Pediatric Patient.

Untying the Next Genetic Thread in a Family With MEN2A Syndrome: A Case Report.

Expansion of the phenotype in ZFX neurodevelopmental disorder in a family.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Familial Aggregation of Primary Hyperparathyroidism and Malignancy-Nationwide Case-Control and Cohort Study.

Integrated proteomics and bioinformatics reveal the pharmacological mechanism of Shenqi Yanshen granule in chronic kidney disease-mineral and bone disorder (CKD-MBD).

Bone marrow adipose tissue expansion and bone loss in experimental chronic kidney disease is independent of altered bone marrow stromal cell lineage determination.

Incidental Finding of Combined Factor V and VIII Deficiency in the Setting of a Preoperative Evaluation: A Case Report.

Advances in the clinical management of parathyroid disorders: report from the 2024 workshop by the ESE educational program on parathyroid disorders.

Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant of Gcm2.

Persistent Hypercalcemia Despite Parathyroidectomy for Primary Hyperparathyroidism in an Adult with Nephrocalcinosis and Nephrolithiasis Caused by a Novel Combination of Two Pathogenic CYP24A1 Mutations.

A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

Dysregulation of bone and myocardial inorganic phosphate transporters and downstream cell signals in early-stage mild chronic kidney disease-mineral and bone disorder: An experimental study.

Concurrent Hyperparathyroidism and Wilson's Disease in a Patient With Methanol Toxicity: A Rare Case Report.

Chronic kidney disease- mineral and bone disorder in autosomal dominant policystic kidney disease.

Periodontal Manifestations of Systemic Diseases.

Predictors of MRI-estimated brain iron deposition in dementia and Parkinson's disease-associated subcortical regions: Genetic and observational analysis in UK Biobank.

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.

Familial hypocalciuric hypercalcaemia type 1 due to a rare CASR missense mutation: a delayed diagnosis in a man with chronic hypercalcaemia.

Risk Factors for Pituitary Adenoma Development in Multiple Endocrine Neoplasia Type 1: A Nationwide Study of 240 Cases.

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.

Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

French expert consensus statement on diagnosis and management of primary hyperparathyroidism.

CaSR Gene Polymorphisms and PHPT Phenotypes: What Else Can We Learn? A Single-Center Experience on a Cohort of Italian Patients.

Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal.

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.

Long-term epidemiological insights into rickets: a nationwide population-based retrospective study.

Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.

A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism.

Recurrent pathological fractures in chronic kidney disease revealing overlapping neglected primary hyperparathyroidism and GDF5-associated skeletal dysplasia.

Association of germline variants in the ZFX gene with primary hyperparathyroidism.

Diagnosing the silent: the molecular landscape of non-functional parathyroid carcinoma.

A Rare Case of Familial Hypocalciuric Hypercalcemia in Patient With Pancreatitis.

Primary hyperparathyroidism in children: Insights from a single-center cohort.

Clinical insight into hypercalcemia in children.

Familial Thyroid Cancers Syndromes.

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

Management of Primary Hyperparathyroidism: Historical and Contemporary Perspectives.

Novel germline likely pathogenic frameshift variant of the MEN1 gene contributes to multiple endocrine neoplasia type 1: a case report with review of literature.

Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

The role of thymectomy during parathyroidectomy in multiple endocrine neoplasia type 1-associated hyperparathyroidism: a systematic review and meta-analysis.

Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study.

Differential diagnosis of heritable and acquired osteomalacia in children: biochemical and biomaterial signatures.

Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.

Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.

Endocrinopathies associated with pediatric common variable immunodeficiency.

Sporadic Coexistence of Parathyroid Adenoma, Papillary Thyroid Carcinoma, Pheochromocytoma, and Cardiac Myxoma: A Multidisciplinary Approach to an Extremely Rare Tumor Constellation.

Recurrent acute pancreatitis as an initial presentation of primary hyperparathyroidism in juvenile patient.

Treatments for MEN1-associated endocrine tumours: three systematic reviews and a meta-analysis.

PHEX Protein in the Parathyroid Gland Contributes to Phosphate Sensing.

Single cell sequencing revealed parathyroid oxyphil cells are involved in osteoporosis under primary hyperparathyroidism.

Causal validation between 179 lipids and hyperparathyroidism: A bidirectional Mendelian randomization combined meta-analysis with mediation factors.

Multiple endocrine neoplasia type 2A: a diagnostic challenge case report.

Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia.

Rapid development of diffuse hepatic calcification in a patient with congenital hepatic fibrosis and secondary hyperparathyroidism.

A Pituitary Macroadenoma Cosecreting Prolactin and Growth Hormone in a Patient With Multiple Endocrine Neoplasia Type 4.

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.

[Genetic profiling of parathyroid tumours: lifting the veil of mystery].

Identifying Kidney Stone Risk Factors Through Patient Experiences With a Large Language Model: Text Analysis and Empirical Study.

miRNAs in secondary hyperparathyroidism: literature review.

Clinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.

Persistent Hyperparathyroidism in Vitamin D-Dependent Rickets Type 2A Does Not Prevent Normalization of Hypophosphatemia or Healing of the Rickets.

Renal insufficiency caused by TMEM216 gene mutation: Case Report.

An Updated Perspective of the Clinical Features and Parathyroidectomy Impact in Primary Hyperparathyroidism Amid Multiple Endocrine Neoplasia Type 1 (MEN1): Focus on Bone Health.

Radiation-Induced Synchronous Parathyroid Carcinoma and Papillary Thyroid Carcinoma: Clinical, Morphological, and Genetic Insights.

Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism.

A Rare Case of a Giant Parathyroid Adenoma in a Young Male Patient.

MEN2: surgical precision in the era of precision medicine.

Biased antibodies and beyond: a new era in the diagnosis of PTH-dependent hypercalcemia.

Endocrine and Neuroendocrine Tumors: Updates From the 5th Edition of the World Health Organization "Blue Book".

Idiopathic Hypercalciuria: A Comprehensive Review of Clinical Insights and Management Strategies.

Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.

Diabetic Ketoacidosis With Schmidt Syndrome: An Autoimmune Polyendocrine Syndrome Type 2.

Predictors of Mortality in Patients With Multiple Endocrine Neoplasia Type 1.

Primary renal tubular acidosis during pregnancy, what about the perinatal prognosis? A case report and literature review.

An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.

A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia.

Leptin regulates parathyroid hormone secretion through CaSR-ERK1/2 signaling.

Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program.

Dendrimer nanocarriers for targeted co-delivery of MiR-146b-3p and 5-ALA to synergistic photodynamic therapy in secondary hyperparathyroidism.

Importance of early detection in multiple endocrine neoplasia type 1: Clinical insights and future directions.

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

Insulinoma: A Novel Presentation of Multiple Endocrine Neoplasia 4.

A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors.

[Novel mutations in the calcium-sensing receptor encoding genes as a cause of familial hypocalciuric hypercalcemia].

Vitamin D receptor: a possible biomarker for sporadic parathyroid adenoma?

Oncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives.

Hyperparathyroidism-Jaw Tumor Syndrome: A Rare Case Report and Literature Review.

Microbial Influences on Calcium-Phosphorus Homeostasis and Metabolic Bone Diseases: A Bidirectional Mendelian Randomisation Study on the Gut-Bone Axis.

Molecular mechanism for transcriptional regulation of the parathyroid hormone gene by Epiprofin.

Management and Long-Term Monitoring of a Young Patient with Pheochromocytoma and RET Mutation: A Case Report.

Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome Clinical Presentation and the Role of Newer Functional Imaging in the Diagnosis and Management: A Case Report.

Multiple endocrine neoplasia type 1 in childhood and description of a novel variant.

Hyperparathyroidism-Jaw Tumor Syndrome: A Case Diagnosed After the Removal of Multiple Ossifying Fibromas of the Jaws.

A Novel Multiple Endocrine Neoplasia Type 1 Gene Variant Found in Scalp Pulmonary Neuroendocrine Tumor Metastasis.

Post-surgical natural history of MEN2A with RET C634R mutation and bilateral cervical node metastasis: a case report.

Primary Hyperparathyroidism in MEN2 Syndromes.

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Serendipitous Discovery and Characterization of Two Different Pathologies on 68 Ga-DOTATATE and 68 Ga-Exendin PET/CT in a Patient With Hyperinsulinemic Hypoglycemia Leading to Diagnosis of MEN-1.

A Pilot Study of ANXA2, MED12, CALM1 and MAPK1 Gene Variants in Primary Hyperparathyroidism.

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Molecular basis of symptomatic sporadic primary hyperparathyroidism: New frontiers in pathogenesis.

Management of primary hyperparathyroidism in MEN1: From initial subtotal surgery to complex treatment of the remaining gland.

Fgf23 expression increases atherosclerotic plaque burden in male ApoE deficient mice.

Use of Olaparib in the Management of Metastatic Parathyroid Carcinoma With BRCA1 Mutation.

Multiple endocrine neoplasia type 1: Early diagnosis is very important.

Congenital primary hyperparathyroidism.

Multiple Endocrine Neoplasia Type 1 With Adrenal Cortical Adrenocortical Carcinoma: A 25-Year Follow-Up and Family Report.

Phosphate metabolism in primary hyperparathyroidism: a real-life long-term study.

Exploring the causal relationship between GLP-1R agonists and diseases related to the thyroid and parathyroid: a mendelian randomization study.

Mitochondrial dysfunction and mitophagy blockade contribute to renal osteodystrophy in chronic kidney disease-mineral bone disorder.

Changing trends in clinical presentation of primary hyperparathyroidism across countries over time.

Association of primary hyperparathyroidism with pituitary adenoma and management issues.

Renal Neoplasia: Rare Subtypes and Uncommon Clinical Presentations.

Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes.

Aerobic exercise prevents renal osteodystrophy via irisin-activated osteoblasts.

A Novel Pathogenic CDC73 Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome.

Unusual presentation and management of parathyroid carcinoma with pulmonary metastasis: a case report.

Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).

Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients.

Biting off more than you can chew: a rare case of hyperparathyroidism jaw tumour syndrome.

Case report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.

PI3K/AKT/mTOR Activation Is Associated With Malignant Severity and Poorer Prognosis in Parathyroid Carcinomas.

Progress report on multiple endocrine neoplasia type 1.

Adolescent primary hyperparathyroidism.

Chapter 15: Recurrent or persistent primary hyperparathyroidism, parathyromatosis.

Chapter 5: The roles of genetics in primary hyperparathyroidism.

Chapter 8: Management of aggressive forms of primary HPT: Parathyroid carcinoma and atypical parathyroid tumor.

Chapter 6: Syndromic primary hyperparathyroidism.

Chapter 0: Introduction to the consensus on primary hyperparathyroidism from the French Society of Endocrinology, French speaking Association of Endocrine Surgery and French Society of Nuclear Medicine.

Chapter 7: The different forms of primary hyperparathyroidism at different ages of life: Childhood, pregnancy, lactation, old age.

Chapter 4: Differential diagnosis of primary hyperparathyroidism.

Chapter 1: Epidemiology of primary hyperparathyroidism.

Retrospectively diagnosed familial hypocalciuric hypercalcaemia following total parathyroidectomy in an asymptomatic patient.

Differences in association between hypoalbuminaemia and mortality among younger versus older patients on haemodialysis.

[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].

Bone Health ECHO Case Report: High Bone Mass in a Patient with Chronic Kidney Disease.

Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.

The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.

Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability?

Genotype-negative multiple endocrine neoplasia type 1 with prolactinoma, hyperparathyroidism, and subclinical Cushing's syndrome accompanied by hyperglycemia: a case report.

Atypical Presentation of Primary Hyperparathyroidism.

Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.

Characteristics of lipid metabolism and fat distribution in patients with primary hyperparathyroidism and their Mendelian randomization study.

Approaching hypercalcemia in monoclonal gammopathy of undetermined significance: insights from the iStopMM screening study.

Primary hyperparathyroidism due to a giant parathyroid adenoma presenting with pathological fractures and multiple brown tumors.

Reviewing the Possible Rare Reasons for Normal Parathyroid Hormone, Vitamin D and Serum Calcium Levels in a Patient With Severe Osteoporosis and Radiologic Parathyroid Adenoma: A Case Report.

Intestinal Cyp24a1 regulates vitamin D locally independent of systemic regulation by renal Cyp24a1 in mice.

CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.

Prevalence of the major thyroid cancer-associated syndromes in the United States.

Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people.