Disease: Hypocalciuric hypercalcemia- familial- type 1
- <em>GCM2</em> p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism
- A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation
- A clinical perspective of parathyroid hormone related hypercalcaemia
- A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by <em>AP2S1</em> mutation
- A Novel Genetic Variant Resulting in Familial Hypocalciuric Hypercalcaemia
- A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia
- A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects
- A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
- A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism
- A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros
- A series of clinical cases of familial hypocalciuric hypercalcemia syndrome
- Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
- AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia
- Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
- Approach to the Child with Hypercalcaemia
- Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology
- Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation
- Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population
- Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia
- Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia
- Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca<sup>2+</sup> Sensing but Not G Protein Interaction
- Chondrocalcinosis revealing familial hypocalciuric hypercalcemia: about one observation
- Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα<sub>11</sub> Mutation
- Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1
- Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation
- Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature
- Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation
- Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with <em>AP2S1</em> Gene Mutation in Codon Arg15His
- Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia
- Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients
- Clinical, Biochemical, and Genetic Profile of an Indian Kindred with Type 1 Familial Hypocalciuric Hypercalcemia
- Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report
- Control of PTH secretion by the TRPC1 ion channel
- Double jeopardy: a patient's tale of two concurrent hypercalcaemic syndromes
- Dysregulation of calcium metabolism in type 1 myotonic dystrophy
- Effects of PTH and PTH Hypersecretion on Bone: a Clinical Perspective
- Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism
- Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective
- Excluding familial hypocalciuric hypercalcaemia before surgery for primary hyperparathyroidism - a practical evaluation of urinary calcium using a retrospective cohort design
- Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals
- Factors influencing pre-operative urinary calcium excretion in primary hyperparathyroidism
- Familial and Hereditary Forms of Primary Hyperparathyroidism
- Familial hypocalciuric hypercalcaemia type 1 caused by a novel heterozygous missense variant in the CaSR gene, p(His41Arg): two case reports
- Familial hypocalciuric hypercalcaemia type 3: <em>AP2S1</em> missense mutation
- Familial hypocalciuric hypercalcemia and calcium sensing receptor
- Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism
- Familial hypocalciuric hypercalcemia and related disorders
- Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism
- Familial hypocalciuric hypercalcemia associated with crystal deposition disease
- Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family
- Familial hypocalciuric hypercalcemia in an index male: grey zones of the differential diagnosis from primary hyperparathyroidism in a 13-year clinical follow up
- Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls
- Familial hypocalciuric hypercalcemia presenting with psychosis
- Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
- Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene
- Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences
- Familial hypocalciuric hypercalcemia: A case report
- Familial hypocalciuric hypercalcemia: the challenge of diagnosis
- Functional Analysis of Calcium-Sensing Receptor Variants Identified in Families Provisionally Diagnosed with Familial Hypocalciuric Hypercalcaemia
- Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort
- Genetics of hereditary forms of primary hyperparathyroidism
- GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia
- Gα11 deficiency increases fibroblast growth factor 23 levels in a mouse model of familial hypocalciuric hypercalcemia
- Hereditary syndromal and nonsyndromal forms of primary hyperparathyroidism
- Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1)
- Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia
- Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia
- Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
- Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report
- Is routine 24-hour urine calcium measurement useful during the evaluation of primary hyperparathyroidism?
- Misleading localization by <sup>18</sup>F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report
- Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (<em>CDC73</em>) Variant
- Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
- Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3
- New Concepts About Familial Isolated Hyperparathyroidism
- New mutation in the calcium-sensing receptor gene as a form of presentation of familial hypocalciuric hypercalcemia type 1
- Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia
- One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia
- Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia
- Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia
- Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR
- Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
- Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia
- Primary Hyperparathyroidism
- Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia
- Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a model of familial hypocalciuric hypercalcemia type 1
- Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
- Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism
- Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia
- Syndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinic
- The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1)
- The calcium sensing receptor: from calcium sensing to signaling
- The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases
- The Calcium-Sensing Receptor Is Essential for Calcium and Bicarbonate Sensitivity in Human Spermatozoa
- The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene
- THE FAMILIAL HYPOCALCIURIC HYPERCALCEMIA PRESENTED WITH ADVANCED HYPERCALCEMIA AND EXTREMELY HIGH PARATHORMON LEVELS (CASE REPORT)
- The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport
- UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS
- Urinary calcium indices in primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH): which test performs best?
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