Hypercalciuric hypocalcemia 1

Stock JL et al. (1999) Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.

Vezzoli G et al. () Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.

Hu J et al. (2004) Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.

Vargas-Poussou R et al. (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.

None (2001) Genetic developments in hypoparathyroidism.

Yamamoto M et al. (2000) Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?

Okazaki R et al. (1999) A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

Watanabe T et al. (1998) Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.

De Luca F et al. (1997) Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

Pearce SH et al. (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

Baron J et al. (1996) Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.

Løvlie R et al. (1996) The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.

Pollak MR et al. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

Finegold DN et al. (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13.

Mittelman SD et al. (2006) A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

Hough TA et al. (2004) Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.

Hendy GN et al. (2003) Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

Tan YM et al. (2003) Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

Watanabe S et al. (2002) Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

Sato K et al. (2002) Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

Nagase T et al. (2002) A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

Brown EM et al. (2001) Extracellular calcium sensing and extracellular calcium signaling.

Lienhardt A et al. (2000) A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.

Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

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