-
1
-
-
0014114693
-
Neurological manifestations of hypoparathyroidism
-
Fonseca OA, Calverley JR: Neurological manifestations of hypoparathyroidism. Arch Intern Med 1967;120:202-206.
-
(1967)
Arch Intern Med
, vol.120
, pp. 202-206
-
-
Fonseca, O.A.1
Calverley, J.R.2
-
2
-
-
0014004137
-
Effect of diphenylhydantoin and phenobarbital on overt and latent tetany
-
Schaaf M, Payne CA: Effect of diphenylhydantoin and phenobarbital on overt and latent tetany. N Engl J Med 1966;274:1228-1233.
-
(1966)
N Engl J Med
, vol.274
, pp. 1228-1233
-
-
Schaaf, M.1
Payne, C.A.2
-
3
-
-
0025001431
-
Indices of intact serum parathyroid hormone and renal excretion of calcium, phosphate, and magnesium
-
Shaw NJ, Wheeldon J, Brocklebank JT: Indices of intact serum parathyroid hormone and renal excretion of calcium, phosphate, and magnesium. Arch Dis Child 1990;65:1208-1211.
-
(1990)
Arch Dis Child
, vol.65
, pp. 1208-1211
-
-
Shaw, N.J.1
Wheeldon, J.2
Brocklebank, J.T.3
-
4
-
-
0026865130
-
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
-
Parkinson DB, Thakker RV: A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1992;1:149-152
-
(1992)
Nat Genet
, vol.1
, pp. 149-152
-
-
Parkinson, D.B.1
Thakker, R.V.2
-
5
-
-
38049180869
-
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone
-
Datta R, Waheed A, Shah GN, Sly WS: Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. Proc Natl Acad Sci USA 2007;104:19989-19994.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 19989-19994
-
-
Datta, R.1
Waheed, A.2
Shah, G.N.3
Sly, W.S.4
-
6
-
-
0034772381
-
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
-
Ding C, Buckingham B, Levine MA: Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 2001;108:1215-1220.
-
(2001)
J Clin Invest
, vol.108
, pp. 1215-1220
-
-
Ding, C.1
Buckingham, B.2
Levine, M.A.3
-
7
-
-
26444453686
-
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
-
Bowl MR, Nesbit MA, Harding B, et al: An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest 2005; 115:2822-2831.
-
(2005)
J Clin Invest
, vol.115
, pp. 2822-2831
-
-
Bowl, M.R.1
Nesbit, M.A.2
Harding, B.3
-
8
-
-
0038697384
-
Hypoparathyroidism and 22q11 deletion syndrome
-
Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW: Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 2003;88:520-522.
-
(2003)
Arch Dis Child
, vol.88
, pp. 520-522
-
-
Taylor, S.C.1
Morris, G.2
Wilson, D.3
Davies, S.J.4
Gregory, J.W.5
-
9
-
-
0034721115
-
GATA3 haplo-insufficiency causes human HDR syndrome
-
Van Esch H, Groenen P, Nesbit MA, et al: GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000;406:419-422.
-
(2000)
Nature
, vol.406
, pp. 419-422
-
-
Van Esch, H.1
Groenen, P.2
Nesbit, M.A.3
-
10
-
-
0036843239
-
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
-
Parvari R, Hershkovitz E, Grossman N, et al: Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002;32:448- 452.
-
(2002)
Nat Genet
, vol.32
, pp. 448-452
-
-
Parvari, R.1
Hershkovitz, E.2
Grossman, N.3
-
11
-
-
40049104558
-
Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism
-
Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P: Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism. Eur J Pediatr 2008;167:431-434.
-
(2008)
Eur J Pediatr
, vol.167
, pp. 431-434
-
-
Poomthavorn, P.1
Ongphiphadhanakul, B.2
Mahachoklertwattana, P.3
-
12
-
-
33747662305
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
-
Perheentupa J: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006;91:2843-2850.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 2843-2850
-
-
Perheentupa, J.1
-
13
-
-
0032470812
-
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
-
Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, et al: A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998;63:1675-1684.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1675-1684
-
-
Pearce, S.H.1
Cheetham, T.2
Imrie, H.3
Vaidya, B.4
Barnes, N.D.5
Bilous, R.W.6
-
14
-
-
0035724857
-
Autoimmune polyendo-crinopathy syndrome type 1: Treat with kid gloves
-
Pearce SH, Cheetham TD: Autoimmune polyendo-crinopathy syndrome type 1: treat with kid gloves. Clin Endocrinol (Oxf) 2001;54:433-435.
-
(2001)
Clin Endocrinol (Oxf)
, vol.54
, pp. 433-435
-
-
Pearce, S.H.1
Cheetham, T.D.2
-
15
-
-
0031892059
-
Clinical presentation and outcome in primary familial hypomagnesaemia
-
Shalev H, Phillip M, Galil A, Carmi R, Landau D: Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 1998; 78:127-130.
-
(1998)
Arch Dis Child
, vol.78
, pp. 127-130
-
-
Shalev, H.1
Phillip, M.2
Galil, A.3
Carmi, R.4
Landau, D.5
-
16
-
-
18544369466
-
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family
-
Schlingmann KP, Weber S, Peters M, et al: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002;31:166- 170.
-
(2002)
Nat Genet
, vol.31
, pp. 166-170
-
-
Schlingmann, K.P.1
Weber, S.2
Peters, M.3
-
17
-
-
0033763089
-
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit
-
Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, et al: Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet 2000;26:265-266.
-
(2000)
Nat Genet
, vol.26
, pp. 265-266
-
-
Meij, I.C.1
Koenderink, J.B.2
van Bokhoven, H.3
Assink, K.F.4
Groenestege, W.T.5
de Pont, J.J.6
-
18
-
-
0030657410
-
Dysregulation of calcium homeostasis after severe burn injury in children: Possible role of magnesium depletion
-
Klein GL, Nicolai M, Langman CB, Cuneo BF, Sailer DE, Herndon DN: Dysregulation of calcium homeostasis after severe burn injury in children: possible role of magnesium depletion. J Pediatr 1997;131:246- 251.
-
(1997)
J Pediatr
, vol.131
, pp. 246-251
-
-
Klein, G.L.1
Nicolai, M.2
Langman, C.B.3
Cuneo, B.F.4
Sailer, D.E.5
Herndon, D.N.6
-
19
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce SH, Williamson C, Kifor O, et al: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996;335:1115-1122.
-
(1996)
N Engl J Med
, vol.335
, pp. 1115-1122
-
-
Pearce, S.H.1
Williamson, C.2
Kifor, O.3
-
21
-
-
0035176619
-
Activating mutations of the calcium-sensing receptor: Management of hypocalcemia
-
Lienhardt A, Bai M, Lagarde J P, et al: Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 2001;86:5313-5323.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5313-5323
-
-
Lienhardt, A.1
Bai, M.2
Lagarde, J.P.3
-
22
-
-
33745797517
-
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: Successful treatment with recombinant human parathyroid hormone
-
Mittelman SD, Hendy GN, Fefferman RA, et al: A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. J Clin Endocrinol Metab 2006;91:2474- 2479.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 2474-2479
-
-
Mittelman, S.D.1
Hendy, G.N.2
Fefferman, R.A.3
-
23
-
-
1442327820
-
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism
-
Kifor O, McElduff A, LeBoff MS, et al: Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. J Clin Endocrinol Metab 2004;89:548-556.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 548-556
-
-
Kifor, O.1
McElduff, A.2
LeBoff, M.S.3
-
24
-
-
0000821313
-
Pseudohypoparathyroidism: An example of 'Seabright-Bantam syndrome'
-
Albright FBC, Smith PH, Parson W: Pseudohypoparathyroidism: an example of 'Seabright-Bantam syndrome'. Endocrinology 1942;30:922-932.
-
(1942)
Endocrinology
, vol.30
, pp. 922-932
-
-
Albright, F.B.C.1
Smith, P.H.2
Parson, W.3
-
25
-
-
0025195106
-
Mutations of the Gs alpha-subunit gene in Albright hereditary osteo-dystrophy detected by denaturing gradient gel electrophoresis
-
Weinstein LS, Gejman P V, Friedman E, Kadowaki T, Collins RM, Gershon ES, et al: Mutations of the Gs alpha-subunit gene in Albright hereditary osteo-dystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990;87: 8287-8290.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8287-8290
-
-
Weinstein, L.S.1
Gejman, P.V.2
Friedman, E.3
Kadowaki, T.4
Collins, R.M.5
Gershon, E.S.6
-
26
-
-
0028143011
-
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy
-
Wilson LC, Oude Luttikhuis ME, Clayton PT, Fraser WD, Trembath RC: Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. J Med Genet 1994;31:835-839.
-
(1994)
J Med Genet
, vol.31
, pp. 835-839
-
-
Wilson, L.C.1
Oude Luttikhuis, M.E.2
Clayton, P.T.3
Fraser, W.D.4
Trembath, R.C.5
-
27
-
-
17844406661
-
GNAS locus and pseudohypoparathyroidism
-
Bastepe M, Juppner H: GNAS locus and pseudohypoparathyroidism. Horm Res 2005;63:65-74.
-
(2005)
Horm Res
, vol.63
, pp. 65-74
-
-
Bastepe, M.1
Juppner, H.2
-
28
-
-
0021827912
-
Dissociation between the effects of endogenous parathyroid hormone on adenosine 3′,5′- mono-phosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: An acquired disorder resembling pseudohypoparathyroidism type II
-
Rao DS, Parfitt AM, Kleerekoper M, Pumo BS, Frame B: Dissociation between the effects of endogenous parathyroid hormone on adenosine 3′,5′- mono-phosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an acquired disorder resembling pseudohypoparathyroidism type II. J Clin Endocrinol Metab 1985;61:285-290.
-
(1985)
J Clin Endocrinol Metab
, vol.61
, pp. 285-290
-
-
Rao, D.S.1
Parfitt, A.M.2
Kleerekoper, M.3
Pumo, B.S.4
Frame, B.5
-
30
-
-
68149140527
-
Oral calcium supplementation reverses the biochemical picture of parathyroid hormone resistance in underprivileged Indian toddlers
-
Khadikar AHH, Sayyad M, Sanwalka N, Khadikar V, Mughal MZ: Oral calcium supplementation reverses the biochemical picture of parathyroid hormone resistance in underprivileged Indian toddlers. Arch Dis Child 2008;93(suppl 1):A1.
-
(2008)
Arch Dis Child
, vol.93
, Issue.SUPPL. 1
-
-
Khadikar, A.H.H.1
Sayyad, M.2
Sanwalka, N.3
Khadikar, V.4
Mughal, M.Z.5
-
31
-
-
0033922939
-
Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
-
Srinivasan M, Abinun M, Cant AJ, Tan K, Oakhill A, Steward CG: Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia. Arch Dis Child Fetal Neonatal Ed 2000;83:F21-F23.
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.83
-
-
Srinivasan, M.1
Abinun, M.2
Cant, A.J.3
Tan, K.4
Oakhill, A.5
Steward, C.G.6
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