| 1 | Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. (21643651) | Aparicio Lopez C.... Castano L. | 2011 | CASR |
| 2 | Identification and functional analysis of novel calci um-sensing receptor gene mutation in familial hypocalciuric hypercalcemia. (20697181) | Nanjo K.... Koike T. | 2010 | CASR |
| 3 | A Patient with Primary Hyperparathyroidism Associated with Familial Hypocalciuric Hypercalcemia Induced by a Novel Germline CaSR Gene Mutation. (19423460) | Yabuta T.... Amino N. | 2009 | CASR |
| 4 | A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inhe ritance of familial hypocalciuric hypercalcemia. (19789209) | Lietman S.A.... Levine M.A. | 2009 | CASR |
| 5 | Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. (19073830) | Cetani F.... Marcocci C. | 2009 | CASR |
| 6 | A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function. (18296474) | Demedts M.... Bouillon R. | 2008 | CASR |
| 7 | Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. (18787045) | Christensen S.E.... Mosekilde L. | 2008 | CASR |
| 8 | Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790) | Ono Y.... Itoh M. | 2008 | CASR |
| 9 | Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. (17473068) | Zajickova K.... Hendy G.N. | 2007 | CASR |
| 10 | An acquired hypocalciuric hypercalcemia autoantibody induces allosteric transition among active human Ca-sensing receptor conformations. (17372216) | Makita N.... Iiri T. | 2007 | CASR |
| 11 | Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. (17217434) | Novak J.E.... Greenberg A. | 2007 | CASR |
| 12 | Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. (17698911) | Nissen P.H.... Mosekilde L. | 2007 | CASR |
| 13 | Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene. (17110864) | Nyweide K.... Van Eenwyk C. | 2006 | CASR |
| 14 | A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. (16642557) | Woo S.I.... Chung Y.S. | 2006 | CASR |
| 15 | Dissimilar PTH, gastrin, and calcitonin responses to oral calcium and peptones in hypocalciuric hypercalcemia, primary hyperparathyroidism, and normal subjects: a useful tool for differential diagnosis. (16491288) | Bevilacqua M.... Barbagallo M. | 2006 | CALCA, CASR, PTH |
| 16 | Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484) | Lam C.W.... Tong S.F. | 2005 | CASR |
| 17 | Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. (15572418) | Wystrychowski A.... Hendy G.N. | 2005 | CASR |
| 18 | Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. (15879434) | Pidasheva S.... Hendy G.N. | 2005 | CASR |
| 19 | Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. (15662592) | Felderbauer P.... Schmidt W.E. | 2005 | CASR |
| 20 | Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor. (15269316) | Pallais J.C.... Brown E.M. | 2004 | CASR |
| 21 | Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor (15338977) | Sarli M.... Zanchetta J. | 2004 | CASR |
| 22 | Hypocalciuric hypercalcemia and autoantibodies against the calcium-sensing receptor. (15559962) | Shakibai N. | 2004 | CASR |
| 23 | Hypocalciuric hypercalcemia and autoantibodies against the calcium-sensing receptor. (15548788) | Rickels M.R.... Mandel S.J. | 2004 | CASR |
| 24 | CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (15241791) | Pidasheva S.... Hendy G.N. | 2004 | CASR |
| 25 | Familial hypocalciuric hypercalcemia in a woman with metastatic breast cancer: a case report of mistaken identity. (14602739) | Marcocci C.... Cetani F. | 2003 | CXADR |
| 26 | A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. (12519831) | Kifor O.... Wysolmerski J. | 2003 | PRKAR1A, CASR |
| 27 | Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia. (14714270) | Speer G.... Lakatos P. | 2003 | CASR |
| 28 | Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. (12469911) | Yamauchi M.... Chihara K. | 2002 | CASR, SPG7 |
| 29 | Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? (11889154) | Burski K.... Bollerslev J. | 2002 | CASR |
| 30 | Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. (11889203) | D'Souza-Li L.... Hendy G.N. | 2002 | CASR |
| 31 | Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene. (12521205) | Hanibuchi N.... Konishi I. | 2002 | CASR |
| 32 | Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor (11857921) | Watanabe S.... Fukumoto S. | 2002 | CASR |
| 33 | An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (11668634) | D'Souza-Li L.... Hendy G.N. | 2001 | CASR |
| 34 | A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. (11762699) | Nakayama T.... Kokubun S. | 2001 | CASR |
| 35 | Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (11013439) | Hendy G.N.... Cole D.E. | 2000 | CASR |
| 36 | Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. (11033758) | Brown E.M. | 2000 | NR1I3 |
| 37 | Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families. (10885494) | Schwarz P.... Gammeltoft S. | 2000 | CASR |
| 38 | Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (9109436) | Bai M.... Hendy G.N. | 1997 | CASR |
| 39 | A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. (9298824) | Ward B.K.... Ratajczak T. | 1997 | CASR |
| 40 | Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. (9217223) | Cole D.E.... Hendy G.N. | 1997 | CASR |
| 41 | In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. (9011580) | Bai M.... Steinmann B. | 1997 | NR1I3 |
| 42 | Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. (8636323) | Heath H.... Leppert M.F. | 1996 | CXADR |
| 43 | Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (7726161) | Chou Y.-H.W.... Seidman C.E. | 1995 | CASR |
| 44 | Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. (7673400) | Aida K.... Onaya T. | 1995 | CASR |
| 45 | Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7717399) | Janicic N.... Hendy G.N. | 1995 | CASR, CXADR |
| 46 | Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. (8317484) | Heath H.... Leppert M.F. | 1993 | HHC2 |
| 47 | Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7916660) | Pollak M.R.... Seidman J.G. | 1993 | CASR |
| 48 | The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. (1302026) | Chou Y.H.... Seidman C.E. | 1992 | CASR |
