-
1
-
-
0016724912
-
Primary neonatal hyperparathyroidism: Report of a case and review of the literature
-
Rhone DP. Primary neonatal hyperparathyroidism: report of a case and review of the literature. Am J Clin Pathol. 1975;64:488-499
-
(1975)
Am J Clin Pathol
, vol.64
, pp. 488-499
-
-
Rhone, D.P.1
-
2
-
-
5444235525
-
Neonatal severe hyperparathyroidism: Genotype/phenotype correlation and the use of pamidronate as rescue therapy
-
Waller S, Kurzawinski T, Spitz L, et al. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr. 2004;163:589-594
-
(2004)
Eur J Pediatr
, vol.163
, pp. 589-594
-
-
Waller, S.1
Kurzawinski, T.2
Spitz, L.3
-
3
-
-
0020075824
-
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds
-
Marx SJ, Attie MF, Spiegel AM, et al. An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med. 1982;306:257-264
-
(1982)
N Engl J Med
, vol.306
, pp. 257-264
-
-
Marx, S.J.1
Attie, M.F.2
Spiegel, A.M.3
-
4
-
-
0030744407
-
-
Cole DEC, Janicic N, Salisbury SR, Hendy GN. 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 [published correction appears in Am J Med Genet. 1997;72:251-252]. Am J Med Genet. 1997;71:202-210
-
Cole DEC, Janicic N, Salisbury SR, Hendy GN. 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 [published correction appears in Am J Med Genet. 1997;72:251-252]. Am J Med Genet. 1997;71:202-210
-
-
-
-
5
-
-
0024562475
-
Neonatal hyperparathyroidism: The natural course in the absence of surgical intervention
-
Harris S, D'Ercole A. Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention. Pediatrics. 1989;83:53-56
-
(1989)
Pediatrics
, vol.83
, pp. 53-56
-
-
Harris, S.1
D'Ercole, A.2
-
6
-
-
0033082906
-
Physiology and pathophysiology of the extracellular calcium-sensing receptor
-
Brown EM. Physiology and pathophysiology of the extracellular calcium-sensing receptor. Am J Med. 1999;106:238-253
-
(1999)
Am J Med
, vol.106
, pp. 238-253
-
-
Brown, E.M.1
-
7
-
-
0028220464
-
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: Effects of mutant gene dosage on phenotype
-
Pollak MR, Chou YH, Marx SJ, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype. J Clin Invest. 1994;93:1108-1112
-
(1994)
J Clin Invest
, vol.93
, pp. 1108-1112
-
-
Pollak, M.R.1
Chou, Y.H.2
Marx, S.J.3
-
8
-
-
14044254270
-
Mutant extracellular calcium-sensing receptors and severity of disease
-
Brown EM. Mutant extracellular calcium-sensing receptors and severity of disease. J Clin Endocrinol Metab. 2005;90:1246-1248
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 1246-1248
-
-
Brown, E.M.1
-
9
-
-
0033512775
-
Etidronate therapy for hypercalcemia in subcutaneous fat necrosis of the newborn
-
Rice AM, Rivkees SA. Etidronate therapy for hypercalcemia in subcutaneous fat necrosis of the newborn. J Pediatr. 1999;134:349-351
-
(1999)
J Pediatr
, vol.134
, pp. 349-351
-
-
Rice, A.M.1
Rivkees, S.A.2
-
10
-
-
0034458026
-
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age
-
Plotkin H, Rauch F, Bishop NJ, et al. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab. 2000;85:1846-1850
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 1846-1850
-
-
Plotkin, H.1
Rauch, F.2
Bishop, N.J.3
-
11
-
-
2942702068
-
Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta
-
Munns CF, Rauch F, Mier RJ, et al. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone. 2004;35:231-234
-
(2004)
Bone
, vol.35
, pp. 231-234
-
-
Munns, C.F.1
Rauch, F.2
Mier, R.J.3
-
12
-
-
33749059427
-
Analysis of polymerase chain reaction products by denaturing high-performance liquid chromatography
-
Lam CW. Analysis of polymerase chain reaction products by denaturing high-performance liquid chromatography. Methods Mol Biol. 2006;336:73-82
-
(2006)
Methods Mol Biol
, vol.336
, pp. 73-82
-
-
Lam, C.W.1
-
13
-
-
0034999807
-
Denaturing high-performance liquid chromatography: A review
-
Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat. 2001;17:439-474
-
(2001)
Hum Mutat
, vol.17
, pp. 439-474
-
-
Xiao, W.1
Oefner, P.J.2
-
14
-
-
0036141731
-
Familial isolated hyperparathyroidism: Clinical and genetic characteristics of 36 kindreds
-
Simonds W, James-Newton L, Agarwal S, et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore). 2002;81:1-26
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 1-26
-
-
Simonds, W.1
James-Newton, L.2
Agarwal, S.3
-
16
-
-
0036959850
-
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia
-
D'Souza-Li L, Yang B, Canaff L, et al. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2002;87:1309-1318
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1309-1318
-
-
D'Souza-Li, L.1
Yang, B.2
Canaff, L.3
-
17
-
-
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
-
18
-
-
0022639975
-
Neonatal primary hyperparathyroidism: Total parathyroidectomy with autotransplantation of cryopreserved parathyroid tissue
-
Lutz P, Kane O, Pfersdorff A, Seiller F, Sauvage P, Levy JM. Neonatal primary hyperparathyroidism: total parathyroidectomy with autotransplantation of cryopreserved parathyroid tissue. Acta Paediatr Scand. 1986;75:179-182
-
(1986)
Acta Paediatr Scand
, vol.75
, pp. 179-182
-
-
Lutz, P.1
Kane, O.2
Pfersdorff, A.3
Seiller, F.4
Sauvage, P.5
Levy, J.M.6
-
19
-
-
0025183372
-
Primary neonatal hyperparathyroidism: A devastating neurodevelopmental disorder if left untreated
-
Cole D, Forsythe CR, Dooley JM, Grantmyre EB, Salisbury SR. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. J Craniofac Genet Dev Biol. 1990;10:205-214
-
(1990)
J Craniofac Genet Dev Biol
, vol.10
, pp. 205-214
-
-
Cole, D.1
Forsythe, C.R.2
Dooley, J.M.3
Grantmyre, E.B.4
Salisbury, S.R.5
-
20
-
-
1442277007
-
Calcium receptor-mediated intracellular signalling
-
Ward DT. Calcium receptor-mediated intracellular signalling. Cell Calcium. 2004;35:217-228
-
(2004)
Cell Calcium
, vol.35
, pp. 217-228
-
-
Ward, D.T.1
-
21
-
-
0032911696
-
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor
-
Chikatsu N, Fukumoto S, Suzawa M, et al. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. Clin Endocrinol (Oxf). 1999;50:537-543
-
(1999)
Clin Endocrinol (Oxf)
, vol.50
, pp. 537-543
-
-
Chikatsu, N.1
Fukumoto, S.2
Suzawa, M.3
-
22
-
-
0027426286
-
-
Wilkinson H, James J. Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. Arch Dis Child. 1993;69(3 spec No.):319-321
-
Wilkinson H, James J. Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. Arch Dis Child. 1993;69(3 spec No.):319-321
-
-
-
-
23
-
-
0031027244
-
2+-sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
-
2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest. 1997;99:88-96
-
(1997)
J Clin Invest
, vol.99
, pp. 88-96
-
-
Bai, M.1
Pearce, S.H.2
Kifor, O.3
-
24
-
-
0031471679
-
Maternal-fetal calcium and bone metabolism during pregnancy, puerperium, and lactation
-
Kovacs CS, Kronenberg HM. Maternal-fetal calcium and bone metabolism during pregnancy, puerperium, and lactation. Endocr Rev. 1997;18:832-872
-
(1997)
Endocr Rev
, vol.18
, pp. 832-872
-
-
Kovacs, C.S.1
Kronenberg, H.M.2
-
25
-
-
14044277029
-
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism
-
Wystrychowski A, Pidasheva S, Canaff L, et al. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. J Clin Endocrinol Metab. 2005;90:864-870
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 864-870
-
-
Wystrychowski, A.1
Pidasheva, S.2
Canaff, L.3
-
26
-
-
0033022372
-
Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism
-
Pearce S, Steinmann B. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism. Clin Endocrinol (Oxf). 1999;50:691-693
-
(1999)
Clin Endocrinol (Oxf)
, vol.50
, pp. 691-693
-
-
Pearce, S.1
Steinmann, B.2
-
27
-
-
0036204153
-
Skeletal development in premature infants: A review of bone physiology beyond nutritional aspects
-
Rauch F, Schoenau E. Skeletal development in premature infants: a review of bone physiology beyond nutritional aspects. Arch Dis Child Fetal Neonatal Ed. 2002;86:F82-F85
-
(2002)
Arch Dis Child Fetal Neonatal Ed
, vol.86
-
-
Rauch, F.1
Schoenau, E.2
-
28
-
-
0025365877
-
Management of neonatal hyperparathyroidism with parathyroidectomy and autotransplantation
-
Key LL Jr, Thorne M, Pitzer B, Volberg F, Turner C. Management of neonatal hyperparathyroidism with parathyroidectomy and autotransplantation. J Pediatr. 1990;116:923-926
-
(1990)
J Pediatr
, vol.116
, pp. 923-926
-
-
Key Jr, L.L.1
Thorne, M.2
Pitzer, B.3
Volberg, F.4
Turner, C.5
|