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

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused byAP2S1Mutation

(2015) Sirpa Tenhola et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & 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

Familial hypocalciuric hypercalcaemia

(2013) Signe E. Christensen et al.   Current Opinion in Endocrinology Diabetes and Obesity

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

(2012) Anne-Sophie Lia-Baldini et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor

(2012) Alexandre Loupy et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis

(2009) Alessandro Volpe et al.   JOINT BONE SPINE

Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors

(2008) Ramona Rus et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Natural History of Primary Hyperparathyroidism with or without Parathyroid Surgery after 15 Years

(2008) Mishaela R. Rubin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Disorders Involving Calcium, Phosphorus, and Magnesium

(2008) Sharon M. Moe   PRIMARY CARE

A Novel Ca2+Influx Pathway Activated by Mechanical Stretch in Human Airway Smooth Muscle Cells

(2007) Satoru Ito et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY