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.

A novel missense variant in the calcium-sensing receptor gene in a dog with hypercalcemia.

Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree.

[Diagnostic steps and management of a rare cause of hypercalcemia].

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

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

A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report.

An Underestimated Cause of Hypercalcemia: A Case Report of Milk-Alkali Syndrome.

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

[Appreciative Review of the First Report of Familial Hypocalciuric Hypercalcemia in Chile: A Case of PTH-Dependent Hypercalcemia After Parathyroidectomy].

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

Management of Primary Hyperparathyroidism: Historical and Contemporary Perspectives.

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.

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

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

Disorders of bone and mineral metabolism in pregnancy and lactation: A case based clinical review.

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

Severe Hyperparathyroidism in a 3-year-old girl Due to Homozygous Inactivating Variant of the Calcium Sensing Receptor Gene.

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu).

Congenital primary hyperparathyroidism.

Chapter 15: Recurrent or persistent primary hyperparathyroidism, parathyromatosis.

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

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

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.

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

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

[First Report of a Family with Familial Hypocalciuric Hypercalcemia in Chile: Differential Diagnosis in a Patient with PTH-Dependent Hypercalcemia Post-Parathyroidectomy].

Heterogeneous Origins of Calcium Homeostasis Disorders Arising From 5 Heterozygous Calcium-Sensing Receptor Variants.

Monitoring Calcium-Sensing Receptor (CaSR)-Induced Intracellular Calcium Flux Using an Indo-1 Flow Cytometry Assay.

Is biochemical screening enough to guide calcium-sensing receptor gene mutational analysis when diagnosing familial hypocalciuric hypercalcemia? A retrospective study.

Primary Hyperparathyroidism With Undetectable Intact Parathyroid Hormone.

Novel Mutation in the Calcium-Sensing Receptor Gene Associated With Familial Hypocalciuric Hypercalcemia.

[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].

Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Loss-of-function Thr347Ala Variant in the G Protein Subunit-Α11 Causes Familial Hypocalciuric Hypercalcemia 2.

Two Cases of Symptomatic Familial Hypocalciuric Hypercalcemia: Treatment Response to Calcimimetic Therapy.

Case report: familial hypocalciuric hypercalcemia.

Nephrotic Syndrome Complicated with Familial Hypocalciuric Hypercalcemia in an Infant: A Case Report and Comprehensive Literature Review.

Familial states of primary hyperparathyroidism: an update.

Gα11 deficiency increases fibroblast growth factor 23 levels in a mouse model of familial hypocalciuric hypercalcemia.

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.

A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects.

Challenges in the management of hypercalcemia in pregnancy - Case report of two cases.

Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia.

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.

Genetics of hereditary forms of primary hyperparathyroidism.

Coexistence of a Calcium-Sensing Receptor Mutation and Primary Hyperparathyroidism.

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.

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.

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

New mutation in the calcium-sensing receptor gene as a form of presentation of familial hypocalciuric hypercalcemia type 1.

[Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism].

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.

Approach to the Patient: Management of Parathyroid Diseases Across Pregnancy.

[Syndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinic].

Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.

A Novel Missense CASR Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia.

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

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.

Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca2+ Sensing but Not G Protein Interaction.

Familial hypocalciuric hypercalcemia presenting with psychosis.

A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.

Calcium homeostasis and hyperparathyroidism: Nephrologic and endocrinologic points of view.

Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy.

The Importance of Functionally Characterizing Calcium-Sensing Receptor Variants in Individuals With Hypercalcemia.

Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia.

Personalised medicines for familial hypercalcemia and hyperparathyroidism.

Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.

Clinical, Biochemical, and Genetic Profile of an Indian Kindred with Type 1 Familial Hypocalciuric Hypercalcemia.

Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia.

Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor.

Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia.

Genetics of monogenic disorders of calcium and bone metabolism.

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Hereditary Primary Hyperparathyroidism.

Primary Hyperparathyroidism in Homozygous Sickle Cell Patients: A Hemolysis-Mediated Hypocalciuric Hypercalcemia Phenotype?

THE FAMILIAL HYPOCALCIURIC HYPERCALCEMIA PRESENTED WITH ADVANCED HYPERCALCEMIA AND EXTREMELY HIGH PARATHORMON LEVELS (CASE REPORT).

Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.

Familial hypocalciuric hypercalcemia: the challenge of diagnosis.

Amelioration of hypercalcemia by cinacalcet treatment in a subject with relapsing acquired hypocalciuric hypercalcemia: A case report.

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.

Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report.

A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

Is routine 24-hour urine calcium measurement useful during the evaluation of primary hyperparathyroidism?

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.

Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report.

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Pediatric hyperparathyroidism: review and imaging update.

[Asymptomatic primary hyperparathyroidism : Operation or observation?].

Hypercalcemia during pregnancy: management and outcomes for mother and child.

Rare diseases caused by abnormal calcium sensing and signalling.

Misleading localization by 18F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report.

[A series of clinical cases of familial hypocalciuric hypercalcemia syndrome].

[Hereditary syndromal and nonsyndromal forms of primary hyperparathyroidism].

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.

Familial hypocalciuric hypercalcemia in an index male: grey zones of the differential diagnosis from primary hyperparathyroidism in a 13-year clinical follow up.

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.

A Case of Lithium-Associated Hypocalciuric Hypercalcemia.

Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family.

Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls.

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.

Autoimmune Hypercalcemia Due to Autoantibodies Against the Calcium-sensing Receptor.

A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery.

Control of PTH secretion by the TRPC1 ion channel.

Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1).

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).

Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His.

A NOVEL MUTATION IN CALCIUM-SENSING RECEPTOR PRESENTING AS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA IN A YOUNG MAN.

Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR.

Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female.

Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.

Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation.

A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.

New Concepts About Familial Isolated Hyperparathyroidism.

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.

Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.

Familial and Hereditary Forms of Primary Hyperparathyroidism.

Primary Hyperparathyroidism.

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.

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia.

[Familial hypocalciuric hypercalcemia: A case report].

Familial hypocalciuric hypercalcemia and related disorders.

Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review.

Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients.

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia.

Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia.

N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.

Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.

Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism.

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy.

Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology.

Hypercalcemic Disorders in Children.

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient.

Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene.

Utility of Cinacalcet in Familial Hypocalciuric Hypercalcemia.

[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.].

A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.

MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature.

A Novel Mutation of the Calcium Sensing Receptor Gene in a Franconian Kindred: Heterozygous Mutation c.1697_1698delTG Exon 6.

AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.

Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene.

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

[Hypo and hypercalcemia: from diagnosis to treatment].

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Hypercalcemia. Pathophysiological aspects.

14-3-3 Proteins Buffer Intracellular Calcium Sensing Receptors to Constrain Signaling.

[Bone and Nutrition. A prospect of calcium sensing receptor].

[Chondrocalcinosis revealing familial hypocalciuric hypercalcemia: about one observation].

Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor.

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.

Low 24-hour urine calcium levels in patients with sporadic primary hyperparathyroidism: is further evaluation warranted prior to parathyroidectomy?

The calcium sensing receptor: from calcium sensing to signaling.