Citations for
1CASR, HYPOCA
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A.
Mol Genet Metab 107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26. 2012
2CASR, HYPOCA
Calcium-sensing Receptor (CASR) Mutations and Denaturing High Performance Liquid Chromatography (DHPLC).
Cole D, Yun F, Wong B, Shuen A, Booth R, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy G.
J Mol Endocrinol Mol Endocrinol. 2009 Jan 29. [Epub ahead of print] 2009
3CASR, HYPOCA, HYPOCAB
Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene.
Nyweide K, Feldman KW, Gunther DF, Done S, Lewis C, Van Eenwyk C.
Pediatr Emerg Care 22(11):722-4. 2006
4HYPOCA, CASR
A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.
Burren CP, Curley A, Christie P, Rodda CP, Thakker RV.
J Pediatr Endocrinol Metab 18(7):689-99. 2005
5PTH, CASR, HYPOCA
A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms.
Alvarez-Hernandez D, Santamaria I, Rodriguez-Garcia M, Iglesias P, Delgado-Lillo R, Cannata-Andia JB.
J Mol Endocrinol 31(2):255-62. 2003
6CASR, HYPOCA
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
Hu J, Mora S, Colussi G, Proverbio MC, Jones KA, Bolzoni L, De Ferrari ME, Civati G, Spiegel AM.
J Bone Miner Res 17(8):1461-9. 2002
7CASR, HHC1, HYPOCA, NSHPT
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE.
Hum Mutat 16(4):281-96. 2000
8CASR, HYPOCA
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
Lienhardt A, Garabedian M, Bai M, Sinding C, Zhang Z, Lagarde JP, Boulesteix J, Rigaud M, Brown EM, Kottler ML.
J Clin Endocrinol Metab 85(4):1695-702. 2000
9CASR, HYPOCA
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R, et al.
J Clin Endocrinol Metab 84(1):363-6. 1999
10HHC1, HYPOCA, NSHPT, CASR
Expression and characterization of inactivating and activating mutations in the human Ca2+ o-sensing receptor.
Bai M, et al.
J Biol Chem 271 : 19537-19545. 1996
11HYPOCA, CASR
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
Pearce SHS, et al.
N Engl J Med 335 : 1115-1122. 1996
12HYPOCA, CASR
Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation.
Pollak MR, et al.
Nat Genet 8 : 303-307. 1994