Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by aGNA11mutation

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

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review

(2014) Signe B Thim et al.   ACTA PAEDIATRICA

Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)

(2014) Angela Rogers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization

(2014) Dong Li et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Analysis ofAP2S1, a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism

(2014) Anne-Sophie Lambert et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of G-proteins in the differentiation of epiphyseal chondrocytes

(2014) Andrei S Chagin et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Germline Mutations Affecting Gα11 in Hypoparathyroidism

(2013) Michael Mannstadt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

(2013) M. Andrew Nesbit et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

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

(2011) Friedhelm Raue et al.   CLINICAL ENDOCRINOLOGY

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

(2010) M. Andrew Nesbit et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM