-
1
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce S, 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;335:1115-22.
-
(1996)
N Engl J Med
, vol.335
, pp. 1115-1122
-
-
Pearce, S.1
Williamson, C.2
Kifor, O.3
-
2
-
-
0034721115
-
GATA3 haplo-insuffiency causes human HDR syndrome
-
Van Esch H, Groenen P, Nesbit M, et al. GATA3 haplo-insuffiency causes human HDR syndrome. Nature 2000;406:419-22.
-
(2000)
Nature
, vol.406
, pp. 419-422
-
-
Van Esch, H.1
Groenen, P.2
Nesbit, M.3
-
3
-
-
0032470812
-
A common and recurrent 13 base-pair deletion in the autoimmune regulator (AIRE-1) gene in British autoimmune polyendocrinopathy type 1 (APECED) kindreds
-
Pearce S, Cheetham T, Imrie H, et al. A common and recurrent 13 base-pair deletion in the autoimmune regulator (AIRE-1) gene in British autoimmune polyendocrinopathy type 1 (APECED) kindreds. Am J Hum Genet 1998;63:1675-84.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1675-1684
-
-
Pearce, S.1
Cheetham, T.2
Imrie, H.3
-
4
-
-
0033863548
-
The molecular background of hypophosphatemic rickets
-
Rowe P. The molecular background of hypophosphatemic rickets. Arch Dis Child 2000;83:192-4.
-
(2000)
Arch Dis Child
, vol.83
, pp. 192-194
-
-
Rowe, P.1
-
5
-
-
0027765508
-
Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid
-
Brown E, Gamba G, Riccardi D. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 1993;366:575-80.
-
(1993)
Nature
, vol.366
, pp. 575-580
-
-
Brown, E.1
Gamba, G.2
Riccardi, D.3
-
6
-
-
17444442198
-
Receptors for parathyroid hormone and parathyroid hormone-related peptide: Exploration of their biological importance
-
Juppner H. Receptors for parathyroid hormone and parathyroid hormone-related peptide: exploration of their biological importance. Bone 1999;25:87-90.
-
(1999)
Bone
, vol.25
, pp. 87-90
-
-
Juppner, H.1
-
7
-
-
0032485525
-
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
-
Kitanaka S, Takeyama K, Murayama A, et al. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 1998;338:653-61.
-
(1998)
N Engl J Med
, vol.338
, pp. 653-661
-
-
Kitanaka, S.1
Takeyama, K.2
Murayama, A.3
-
8
-
-
0024268931
-
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
-
Hughes MR, Malloy PJ, Kieback DG, et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 1988;242:1702-5.
-
(1988)
Science
, vol.242
, pp. 1702-1705
-
-
Hughes, M.R.1
Malloy, P.J.2
Kieback, D.G.3
-
9
-
-
0033823465
-
Case-control study of factors associated with nutritional rickets in Nigerian children
-
Thacher TD, Fischer PR, Pettifor JM, et al. Case-control study of factors associated with nutritional rickets in Nigerian children. J Pediatr 2000;137:367-73.
-
(2000)
J Pediatr
, vol.137
, pp. 367-373
-
-
Thacher, T.D.1
Fischer, P.R.2
Pettifor, J.M.3
-
10
-
-
0031647275
-
Absence of vitamin D deficiency in young Nigerian children
-
Pfitzner MA, Thacher TD, Pettifor JM, et al. Absence of vitamin D deficiency in young Nigerian children. J Pediatr 1998;133:740-4.
-
(1998)
J Pediatr
, vol.133
, pp. 740-744
-
-
Pfitzner, M.A.1
Thacher, T.D.2
Pettifor, J.M.3
-
11
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in pateints with X-linked hypophosphataemic rickets
-
The HYP consortium. A gene (PEX) with homologies to endopeptidases is mutated in pateints with X-linked hypophosphataemic rickets. Nat Genet 1995;2:130-6.
-
(1995)
Nat Genet
, vol.2
, pp. 130-136
-
-
-
12
-
-
0029798574
-
X-linked hypophosphatemia: A search for gender, race, anticipation, or parent of origin effects on disease expression in children
-
Whyte MP, Schranck FW, Armamento-Viltareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 1996;81:4075-80.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4075-4080
-
-
Whyte, M.P.1
Schranck, F.W.2
Armamento-Villareal, R.3
-
13
-
-
0034889880
-
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
-
Holm IA, Nelson AE, Robinson BG, et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001;86:3889-99.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3889-3899
-
-
Holm, I.A.1
Nelson, A.E.2
Robinson, B.G.3
-
14
-
-
0031035615
-
Autosomal dominant hypophosphataemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate-wasting disorder
-
Econs MJ, McEnery PT. Autosomal dominant hypophosphataemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 1997;82:674-81.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 674-681
-
-
Econs, M.J.1
McEnery, P.T.2
-
15
-
-
0033763097
-
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. The ADHR Consortium
-
Anonymous. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. The ADHR Consortium. Nat Genet 2000;26:345-8.
-
(2000)
Nat Genet
, vol.26
, pp. 345-348
-
-
-
16
-
-
17744395066
-
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting
-
White KE, Jonsson KB, Carn G, et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001;86:497-500.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 497-500
-
-
White, K.E.1
Jonsson, K.B.2
Carn, G.3
-
17
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
Shimada T, Mizutani S, Muto T, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci 2001;98:6500-5.
-
(2001)
Proc Natl Acad Sci
, vol.98
, pp. 6500-6505
-
-
Shimada, T.1
Mizutani, S.2
Muto, T.3
-
19
-
-
0025001431
-
Indices of intact serum parathyroid hormone and renal excretion of calcium, phosphate and magnesium
-
Shaw N, Wheeldon J, Brocklebank J. Indices of intact serum parathyroid hormone and renal excretion of calcium, phosphate and magnesium. Arch Dis Child 1990;65:1208-11.
-
(1990)
Arch Dis Child
, vol.65
, pp. 1208-1211
-
-
Shaw, N.1
Wheeldon, J.2
Brocklebank, J.3
-
20
-
-
0034485333
-
Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: Is it possible to differentiate the two disorders?
-
Yamamoto M, Akatsu T, Nagase T, et al. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J Clin Endocrinol Metab 2000;85:4583-91.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 4583-4591
-
-
Yamamoto, M.1
Akatsu, T.2
Nagase, T.3
-
21
-
-
0015968986
-
Urinary excretion of calcium and magnesium in children
-
Ghazali S, Barratt TM. Urinary excretion of calcium and magnesium in children. Arch Dis Child 1974;49:97-101.
-
(1974)
Arch Dis Child
, vol.49
, pp. 97-101
-
-
Ghazali, S.1
Barratt, T.M.2
-
22
-
-
0016721902
-
Normogram for derivation of renal threshold phosphate concentration
-
Walton R, Bijvoet O. Normogram for derivation of renal threshold phosphate concentration. Lancet 1975;2:309-10.
-
(1975)
Lancet
, vol.2
, pp. 309-310
-
-
Walton, R.1
Bijvoet, O.2
-
23
-
-
0023926433
-
Assessment of maximal tubular phosphate reabsorption: Comparison of direct measurement with the nomogram of Bijvoet
-
Bradehl J, Krause A, Hoyer PF. Assessment of maximal tubular phosphate reabsorption: comparison of direct measurement with the nomogram of Bijvoet. Pediatr Nephrol 1988;2:183-9.
-
(1988)
Pediatr Nephrol
, vol.2
, pp. 183-189
-
-
Bradehl, J.1
Krause, A.2
Hoyer, P.F.3
-
24
-
-
0035883807
-
Cure of lifelong fatigue by calcium supplementation
-
Alscher D, Mettang T, Kuhlmann U. Cure of lifelong fatigue by calcium supplementation. Lancet 2001;358:888.
-
(2001)
Lancet
, vol.358
, pp. 888
-
-
Alscher, D.1
Mettang, T.2
Kuhlmann, U.3
-
25
-
-
0025013749
-
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
-
Arnold A. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest 1990;86:1084-7.
-
(1990)
J Clin Invest
, vol.86
, pp. 1084-1087
-
-
Arnold, A.1
-
26
-
-
0026865130
-
A donor splice mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
-
Parkinson D, Thakker R. A donor splice mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1992;1:149-52.
-
(1992)
Nat Genet
, vol.1
, pp. 149-152
-
-
Parkinson, D.1
Thakker, R.2
-
27
-
-
0034772381
-
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
-
Ding D, Buckingham B, Levine M. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 2001;108:1215-20.
-
(2001)
J Clin Invest
, vol.108
, pp. 1215-1220
-
-
Ding, D.1
Buckingham, B.2
Levine, M.3
-
28
-
-
0035724857
-
Autoimmune polyendocrinopathy syndrome type 1: Treat with kid gloves
-
Pearce S, Cheetham T. Autoimmune polyendocrinopathy syndrome type 1: treat with kid gloves. Clin Endocrinol 2001;54:433.
-
(2001)
Clin Endocrinol
, vol.54
, pp. 433
-
-
Pearce, S.1
Cheetham, T.2
-
29
-
-
0036252109
-
Orthoptic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1
-
Smith D, Stringer M, Wyatt J, et al. Orthoptic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Paediatr Transplant 2002;6:166-70.
-
(2002)
Paediatr Transplant
, vol.6
, pp. 166-170
-
-
Smith, D.1
Stringer, M.2
Wyatt, J.3
-
30
-
-
0343632387
-
Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: A clinical and molecular genetic study of four children with Kearns-Sayre syndrome
-
Wilichowski E, Gruters A, Kruse K, et al. Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res 1997;41:193-200.
-
(1997)
Pediatr Res
, vol.41
, pp. 193-200
-
-
Wilichowski, E.1
Gruters, A.2
Kruse, K.3
-
31
-
-
0037206034
-
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
-
Watanabe S, Fukumoto S, Chang H, et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002;360:692-4.
-
(2002)
Lancet
, vol.360
, pp. 692-694
-
-
Watanabe, S.1
Fukumoto, S.2
Chang, H.3
-
32
-
-
0033847039
-
Nutritional rickets in African American breast-fed infants
-
Kreiter SR, Schwartz RP, Kirkman HN Jr, et al. Nutritional rickets in African American breast-fed infants. J Pediatr 2001;37:153-7.
-
(2001)
J Pediatr
, vol.37
, pp. 153-157
-
-
Kreiter, S.R.1
Schwartz, R.P.2
Kirkman H.N., Jr.3
-
33
-
-
0036201560
-
Vitamin D deficiency in UK Asian faimilies: Activating a new concern
-
Shaw NJ, Pal BR. Vitamin D deficiency in UK Asian faimilies: activating a new concern. Arch Dis Child 2002;86:147-9.
-
(2002)
Arch Dis Child
, vol.86
, pp. 147-149
-
-
Shaw, N.J.1
Pal, B.R.2
-
34
-
-
0029082975
-
Vitamin D deficiency rickets in breast-fed infants presenting with hypocalcaemic seizures
-
Ahmed I, Atiq M, Iqbal J, et al. Vitamin D deficiency rickets in breast-fed infants presenting with hypocalcaemic seizures. Acta Paediatr 1995;84:941-2.
-
(1995)
Acta Paediatr
, vol.84
, pp. 941-942
-
-
Ahmed, I.1
Atiq, M.2
Iqbal, J.3
-
35
-
-
0033514025
-
Vitamin D concentrations in Asian children aged 2 years living in England: Population survey
-
Lawson M, Thomas M. Vitamin D concentrations in Asian children aged 2 years living in England: population survey. BMJ 1999;318:28.
-
(1999)
BMJ
, vol.318
, pp. 28
-
-
Lawson, M.1
Thomas, M.2
-
36
-
-
0034857985
-
Diagnosis and clinical biochemistry of inherited tubulopathies
-
Sayer JA, Pearce SHS. Diagnosis and clinical biochemistry of inherited tubulopathies. Ann Clin Biochem 2001;38:459-70.
-
(2001)
Ann Clin Biochem
, vol.38
, pp. 459-470
-
-
Sayer, J.A.1
Pearce, S.H.S.2
-
38
-
-
0036148298
-
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
-
Linglart A, Carel JC, Garabedian M, et al. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 2002;89:189-97.
-
(2002)
J Clin Endocrinol Metab
, vol.89
, pp. 189-197
-
-
Linglart, A.1
Carel, J.C.2
Garabedian, M.3
|