Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia

(2010) J.I. Sørheim et al.   Hormone Research in Paediatrics

Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

(2010) Saskia Letz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography

(2009) David E C Cole et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

(2008) Ogo I. Egbuna et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

PTH(1-34) Replacement Therapy in a Child With Hypoparathyroidism Caused by a Sporadic Calcium Receptor Mutation

(2008) Todd A Theman et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

Hypoparathyroidism

(2008) Dolores Shoback   NEW ENGLAND JOURNAL OF MEDICINE