-
1
-
-
0027787680
-
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypo-calciuric hypercalcemia and neonatal severe hyperparathy-roidism
-
Pollak MR, Brown EM, Chou YH, et al. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypo-calciuric hypercalcemia and neonatal severe hyperparathy-roidism. Cell. 1993;75:1297-1303.
-
(1993)
Cell.
, vol.75
, pp. 1297-1303
-
-
Pollak, M.R.1
Brown, E.M.2
Chou, Y.H.3
-
2
-
-
0028848215
-
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
-
Pearce SH, Trump D, Wooding C, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest. 1995;96:2683-2692.
-
(1995)
J Clin Invest.
, vol.96
, pp. 2683-2692
-
-
Pearce, S.H.1
Trump, D.2
Wooding, C.3
-
3
-
-
84873074676
-
-
Calcium-Sensing Receptor Database. Available at: Accessed March 3
-
Calcium-Sensing Receptor Database. Available at: Http://www.casrdb. mcgill.ca. Accessed March 3, 2012.
-
(2012)
-
-
-
4
-
-
17744369268
-
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cy-toplasmic tail of the calcium receptor
-
Carling T, Szabo E, Bai M, et al. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cy-toplasmic tail of the calcium receptor. J Clin Endocrinol Metab. 2000;85:2042-2047.
-
(2000)
J Clin Endocrinol Metab.
, vol.85
, pp. 2042-2047
-
-
Carling, T.1
Szabo, E.2
Bai, M.3
-
5
-
-
77951648285
-
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: Stud-ies from a single endocrine clinic over three years
-
Guarnieri V, Canaff L, Yun FH, et al. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: Stud-ies from a single endocrine clinic over three years. J Clin Endocrinol Metab. 2010;95;4:1819-1829.
-
(2010)
J Clin Endocrinol Metab.
, vol.95
, Issue.4
, pp. 1819-1829
-
-
Guarnieri, V.1
Canaff, L.2
Yun, F.H.3
-
6
-
-
0028845670
-
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Ho C, Conner DA, Pollak MR, et al. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet. 1995;11:389-394.
-
(1995)
Nat Genet.
, vol.11
, pp. 389-394
-
-
Ho, C.1
Conner, D.A.2
Pollak, M.R.3
-
7
-
-
0027517161
-
Genetic linkage analysis in familial benign (hypocalciu-ric) hypercalcemia: Evidence for locus heterogeneity
-
Heath H 3rd, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocalciu-ric) hypercalcemia: Evidence for locus heterogeneity. Am J Hum Genet. 1993;53:193-200.
-
(1993)
Am J Hum Genet.
, vol.53
, pp. 193-200
-
-
Heath III, H.1
Jackson, C.E.2
Otterud, B.3
Leppert, M.F.4
-
8
-
-
0033366514
-
Localization of familial benign hypercalcemia, Okla-homa variant (FBHOk), to chromosome 19q13
-
Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localization of familial benign hypercalcemia, Okla-homa variant (FBHOk), to chromosome 19q13. Am J Hum Genet. 1999;64:189-195.
-
(1999)
Am J Hum Genet.
, vol.64
, pp. 189-195
-
-
Lloyd, S.E.1
Pannett, A.A.2
Dixon, P.H.3
Whyte, M.P.4
Thakker, R.V.5
-
9
-
-
84861041464
-
-
In: Kronen-berg HM, Melmed S, Polonsky KS, Larsen PR, eds Wil-liams Textbook of Endocrinology. 11th edition. Philadel-phia, PA: Saunders-Elsevier
-
Bringhurst FR, Demay MB, Kronenberg HM. Hor-mones and Disorders of Mineral Metabolism. In: Kronen-berg HM, Melmed S, Polonsky KS, Larsen PR, eds. Wil-liams Textbook of Endocrinology. 11th edition. Philadel-phia, PA: Saunders-Elsevier, 2008: 1269-1270.
-
(2008)
Hor-mones and Disorders of Mineral Metabolism
, pp. 1269-1270
-
-
Bringhurst, F.R.1
Demay, M.B.2
Kronenberg, H.M.3
-
10
-
-
51649095701
-
The natu-ral history of primary hyperparathyroidism with or with-out parathyroid surgery after 15 years
-
Rubin MR, Bilezikian JP, McMahon DJ, et al. The natu-ral history of primary hyperparathyroidism with or with-out parathyroid surgery after 15 years. J Clin Endocrinol Metab. 2008;93:3462-3470.
-
(2008)
J Clin Endocrinol Metab.
, vol.93
, pp. 3462-3470
-
-
Rubin, M.R.1
Bilezikian, J.P.2
McMahon, D.J.3
-
11
-
-
59749085382
-
Third Internation-al Workshop on the Management of Asymptomatic Pri-mary Hyperparathyroidism. Guidelines for the manage-ment of asymptomatic primary hyperparathyroidism: Sum-mary statement from the Third International Workshop
-
Bilezikian JP, Khan AA, Potts JT Jr; Third Internation-al Workshop on the Management of Asymptomatic Pri-mary Hyperparathyroidism. Guidelines for the manage-ment of asymptomatic primary hyperparathyroidism: Sum-mary statement from the Third International Workshop. J Clin Endocrinol Metab. 2009;94:335-339.
-
(2009)
J Clin Endocrinol Metab.
, vol.94
, pp. 335-339
-
-
Bilezikian, J.P.1
Khan, A.A.2
Potts Jr., J.T.3
-
12
-
-
0025754245
-
Im-munochemiluminometric and immunoradiometric deter-minations of intact and total immunoreactive parathyrin: Performance in the differential diagnosis of hypercalcemia and hypoparathyroidism
-
Endres DB, Villanueva R, Sharp CF Jr, Singer FR. Im-munochemiluminometric and immunoradiometric deter-minations of intact and total immunoreactive parathyrin: Performance in the differential diagnosis of hypercalcemia and hypoparathyroidism. Clin Chem. 1991;37:162-168.
-
(1991)
Clin Chem.
, vol.37
, pp. 162-168
-
-
Endres, D.B.1
Villanueva, R.2
Sharp Jr., C.F.3
Singer, F.R.4
-
13
-
-
35948951986
-
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
-
Nissen PH, Christensen SE, Heickendorff L, Brixen K, Mosekilde L. 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. J Clin Endocrinol Metab. 2007;92:4373-4379.
-
(2007)
J Clin Endocrinol Metab.
, vol.92
, pp. 4373-4379
-
-
Nissen, P.H.1
Christensen, S.E.2
Heickendorff, L.3
Brixen, K.4
Mosekilde, L.5
-
14
-
-
54049088254
-
Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and pri-mary hyperparathyroidism: A follow-up study on methods
-
Christensen SE, Nissen PH, Vestergaard P, Heickend-orff, L, Brixen K, Mosekilde L. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and pri-mary hyperparathyroidism: A follow-up study on methods. Clin Endocrinol (Oxf). 2008;69:713-720.
-
(2008)
Clin Endocrinol (Oxf).
, vol.69
, pp. 713-720
-
-
Christensen, S.E.1
Nissen, P.H.2
Vestergaard, P.3
Heickend-orff, L.4
Brixen, K.5
Mosekilde, L.6
-
15
-
-
0043166753
-
The estimated prevalence of familial hypocalciuric hypercalcemia (FHH)
-
Glendenning P, Stuckey BG. The estimated prevalence of familial hypocalciuric hypercalcemia (FHH). Calcif Tissue Int. 2002;70:512.
-
(2002)
Calcif Tissue Int.
, vol.70
, pp. 512
-
-
Glendenning, P.1
Stuckey, B.G.2
-
16
-
-
0021330279
-
High-resolution parathyroid ultrasonogra-phy in familial benign hypercalcemia (familial hypocalciu-ric hypercalcemia)
-
Law WM Jr, James EM, Charboneau JW, Purnell DC, Heath H 3rd. High-resolution parathyroid ultrasonogra-phy in familial benign hypercalcemia (familial hypocalciu-ric hypercalcemia). Mayo Clin Proc. 1984;59;3:153-155.
-
(1984)
Mayo Clin Proc.
, vol.59
, Issue.3
, pp. 153-155
-
-
Law Jr., W.M.1
James, E.M.2
Charboneau, J.W.3
Purnell, D.C.4
Heath III, H.5
-
17
-
-
0019476367
-
The parathyroid glands in familial hypocalciuric hypercalcemia
-
Thorgeirsson U, Costa J, Marx SJ. The parathyroid glands in familial hypocalciuric hypercalcemia. Hum Pathol. 1981;12:229-237.
-
(1981)
Hum Pathol.
, vol.12
, pp. 229-237
-
-
Thorgeirsson, U.1
Costa, J.2
Marx, S.J.3
-
18
-
-
0021264989
-
Parathyroid glands in familial benign hypercalcemia (familial hypocal-ciuric hypercalcemia)
-
Law WM Jr, Carney JA, Heath H 3rd. Parathyroid glands in familial benign hypercalcemia (familial hypocal-ciuric hypercalcemia). Am J Med. 1984;76:1021-1026.
-
(1984)
Am J Med.
, vol.76
, pp. 1021-1026
-
-
Law Jr., W.M.1
Carney, J.A.2
Heath III, H.3
-
19
-
-
0034453713
-
Effect of vita-min D nutrition on parathyroid adenoma weight: Pathoge-netic and clinical implications
-
Rao DS, Honasoge M, Divine GW, et al. Effect of vita-min D nutrition on parathyroid adenoma weight: Pathoge-netic and clinical implications. J Clin Endocrinol Metab. 2000;85:1054-1058.
-
(2000)
J Clin Endocrinol Metab.
, vol.85
, pp. 1054-1058
-
-
Rao, D.S.1
Honasoge, M.2
Divine, G.W.3
-
20
-
-
0032764057
-
The effects of vitamin D insufficiency in patients with pri-mary hyperparathyroidism
-
Silverberg SJ, Shane E, Dempster DW, Bilezikian JP. The effects of vitamin D insufficiency in patients with pri-mary hyperparathyroidism. Am J Med. 1999;107:561-567.
-
(1999)
Am J Med.
, vol.107
, pp. 561-567
-
-
Silverberg, S.J.1
Shane, E.2
Dempster, D.W.3
Bilezikian, J.P.4
-
21
-
-
34447119567
-
Identification and functional characterization of a novel mutation in the calcium-sens-ing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status
-
Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN. Identification and functional characterization of a novel mutation in the calcium-sens-ing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab. 2007;92:2616-2623.
-
(2007)
J Clin Endocrinol Metab.
, vol.92
, pp. 2616-2623
-
-
Zajickova, K.1
Vrbikova, J.2
Canaff, L.3
Pawelek, P.D.4
Goltzman, D.5
Hendy, G.N.6
-
22
-
-
0025833864
-
Differential diagnosis of hypercalcemia
-
Lafferty FW. Differential diagnosis of hypercalcemia. J Bone Miner Res. 1991;6(Suppl 2):S51-S59.
-
(1991)
J Bone Miner Res.
, vol.6
, Issue.SUPPL. 2
-
-
Lafferty, F.W.1
-
23
-
-
79958776280
-
In-activating calcium-sensing receptor mutations in patients with primary hyperparathyroidism
-
doi: 10.1111/j.1365-2265.2011.04059.x. [Epub ahead of print]
-
Frank-Raue K, Leidig-Bruckner G, Haag C, et al. In-activating calcium-sensing receptor mutations in patients with primary hyperparathyroidism. Clin Endocrinol (Oxf). 2011. doi: 10.1111/j.1365-2265.2011.04059.x. [Epub ahead of print].
-
(2011)
Clin Endocrinol (Oxf).
-
-
Frank-Raue, K.1
Leidig-Bruckner, G.2
Haag, C.3
-
24
-
-
0036962244
-
Parathyroid adenoma in a subject with familial hy-pocalciuric hypercalcemia: Coincidence or causality?
-
Burski K, Torjussen B, Paulsen AQ, Boman H, Boller-slev J. Parathyroid adenoma in a subject with familial hy-pocalciuric hypercalcemia: Coincidence or causality? J Clin Endocrinol Metab. 2002;87:1015-1016.
-
(2002)
J Clin Endocrinol Metab.
, vol.87
, pp. 1015-1016
-
-
Burski, K.1
Torjussen, B.2
Paulsen, A.Q.3
Boman, H.4
Boller-slev, J.5
-
25
-
-
67650103185
-
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia in-duced by a novel germline CaSR gene mutation
-
Yabuta T, Miyauchi A, Inoue H, Yoshida H, Hirokawa M, Amino N. A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia in-duced by a novel germline CaSR gene mutation. Asian J Surg. 2009;32:118-122.
-
(2009)
Asian J Surg.
, vol.32
, pp. 118-122
-
-
Yabuta, T.1
Miyauchi, A.2
Inoue, H.3
Yoshida, H.4
Hirokawa, M.5
Amino, N.6
-
26
-
-
67650724092
-
Association of parathyroid adenoma and familial hypocalciuric hypercal-caemia in a teenager
-
Brachet C, Boros E, Tenoutasse S, et al. Association of parathyroid adenoma and familial hypocalciuric hypercal-caemia in a teenager. Eur J Endocrinol. 2009;161:207-210.
-
(2009)
Eur J Endocrinol.
, vol.161
, pp. 207-210
-
-
Brachet, C.1
Boros, E.2
Tenoutasse, S.3
|