Disease: Hypocalciuric hypercalcemia- familial- type 2
- A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling
- A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
- A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of 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 germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia
- A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
- A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia
- A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros
- Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
- Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders
- 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
- Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology
- Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor
- 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
- Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia
- Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca<sup>2+</sup> Sensing but Not G Protein Interaction
- Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation
- 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 sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation
- 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 characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients
- Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations
- Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)
- Different vitamin D substrate-product relationship after oral vitamin D supplementation in familial benign hypercalcemia, primary hyperparathyroidism, and healthy controls
- Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism
- Diseases associated with calcium-sensing receptor
- Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.
- Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis
- Double jeopardy: a patient's tale of two concurrent hypercalcaemic syndromes
- 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 benign hypocalciuric hypercalcaemia
- Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue
- 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 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 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
- Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study
- G proteins--the disease spectrum expands
- GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia
- Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT
- Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1)
- Hyperparathyroid genes: sequences reveal answers and questions
- Hypocalciuric Hypercalcemia due to Impaired Renal Tubular Calcium Excretion in a Type 2 Diabetic Patient
- Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia
- Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia
- Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3
- Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria
- Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study
- Is routine 24-hour urine calcium measurement useful during the evaluation of primary hyperparathyroidism?
- Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling
- Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms
- Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143
- Low urine calcium excretion in African American patients with primary hyperparathyroidism
- Misleading localization by <sup>18</sup>F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report
- Molecular pathogenesis of primary hyperparathyroidism
- Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management
- Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR)
- Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)
- Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia
- Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
- N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (<em>Ap2s1</em>) Mutations Establish <em>Ap2s1</em> Loss-of-Function Mice
- 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
- 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
- Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications
- Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor
- Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3
- Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism
- Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia
- 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 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
- Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity
- Uncoupling of secretion from growth in some hormone secretory tissues
- UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS
- Urinary calcium indices in primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH): which test performs best?
- Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation