| 1 | CASR, HHC1, HYPOCA
|
| Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
|
| Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center
|
| Am J Hum Genet. Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. 2020
|
| 2 | CASR, 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
|
| 3 | CASR, 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
|
| 4 | CASR, 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
|
| 5 | HYPOCA, 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
|
| 6 | PTH, 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
|
| 7 | CASR, 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
|
| 8 | CASR, 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
|
| 9 | CASR, 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
|
| 10 | CASR, 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
|
| 11 | HHC1, 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
|
| 12 | HYPOCA, 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
|
| 13 | HYPOCA, CASR
|
| Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation.
|
| Pollak MR, et al.
|
| Nat Genet 8 : 303-307. 1994
|