119 related articles for article (PubMed ID: 10468939)
1. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism.
Pearce S; Steinmann B
Clin Endocrinol (Oxf); 1999 Jun; 50(6):691-3. PubMed ID: 10468939
[No Abstract] [Full Text] [Related]
2. Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
Pearce SH
Ann Med; 2002; 34(3):201-6. PubMed ID: 12173690
[TBL] [Abstract][Full Text] [Related]
3. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Bai M; Janicic N; Trivedi S; Quinn SJ; Cole DE; Brown EM; Hendy GN
J Clin Invest; 1997 Apr; 99(8):1917-25. PubMed ID: 9109436
[TBL] [Abstract][Full Text] [Related]
4. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
Pearce SH; Trump D; Wooding C; Besser GM; Chew SL; Grant DB; Heath DA; Hughes IA; Paterson CR; Whyte MP
J Clin Invest; 1995 Dec; 96(6):2683-92. PubMed ID: 8675635
[TBL] [Abstract][Full Text] [Related]
5. [Calcium transport in the kidney].
Houillier P
Nephrol Ther; 2013 Nov; 9(6):455-8. PubMed ID: 24176249
[No Abstract] [Full Text] [Related]
6. 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.
Bai M; Pearce SH; Kifor O; Trivedi S; Stauffer UG; Thakker RV; Brown EM; Steinmann B
J Clin Invest; 1997 Jan; 99(1):88-96. PubMed ID: 9011580
[TBL] [Abstract][Full Text] [Related]
7. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
Watanabe S; Fukumoto S
Nihon Rinsho; 2002 Feb; 60(2):325-30. PubMed ID: 11857921
[TBL] [Abstract][Full Text] [Related]
8. The pathophysiology of primary hyperparathyroidism.
Brown EM
J Bone Miner Res; 2002 Nov; 17 Suppl 2():N24-9. PubMed ID: 12412774
[TBL] [Abstract][Full Text] [Related]
9. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN; D'Souza-Li L; Yang B; Canaff L; Cole DE
Hum Mutat; 2000 Oct; 16(4):281-96. PubMed ID: 11013439
[TBL] [Abstract][Full Text] [Related]
10. 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; Bai M; Hanley DA; Bastepe M; Salisbury SR; Brown EM; Cole DE; Hendy GN
J Clin Endocrinol Metab; 2002 Mar; 87(3):1309-18. PubMed ID: 11889203
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Pollak MR; Brown EM; Chou YH; Hebert SC; Marx SJ; Steinmann B; Levi T; Seidman CE; Seidman JG
Cell; 1993 Dec; 75(7):1297-303. PubMed ID: 7916660
[TBL] [Abstract][Full Text] [Related]
12. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.
Schwarz P; Larsen NE; Lønborg Friis IM; Lillquist K; Brown EM; Gammeltoft S
Scand J Clin Lab Invest; 2000 May; 60(3):221-7. PubMed ID: 10885494
[TBL] [Abstract][Full Text] [Related]
13. Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
Reh CM; Hendy GN; Cole DE; Jeandron DD
J Clin Endocrinol Metab; 2011 Apr; 96(4):E707-12. PubMed ID: 21289269
[TBL] [Abstract][Full Text] [Related]
14. Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M; Letz S; Quinkler M; Bogner U; Elbelt U; Strasburger CJ; Schnabel D; Lankes E; Scheel S; Feldkamp J; Haag C; Schulze E; Frank-Raue K; Raue F; Mayr B; Schöfl C
Eur J Endocrinol; 2016 Nov; 175(5):421-31. PubMed ID: 27666534
[TBL] [Abstract][Full Text] [Related]
15. Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia.
Matsuo M; Okita K; Takemine H; Fujita T
Am J Dis Child; 1982 Aug; 136(8):728-31. PubMed ID: 7102625
[TBL] [Abstract][Full Text] [Related]
16. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
D'Souza-Li L; Canaff L; Janicic N; Cole DE; Hendy GN
Hum Mutat; 2001 Nov; 18(5):411-21. PubMed ID: 11668634
[TBL] [Abstract][Full Text] [Related]
17. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Ho C; Conner DA; Pollak MR; Ladd DJ; Kifor O; Warren HB; Brown EM; Seidman JG; Seidman CE
Nat Genet; 1995 Dec; 11(4):389-94. PubMed ID: 7493018
[TBL] [Abstract][Full Text] [Related]
18. New insights on the pathogenesis of hypercalcemia in primary hyperparathyroidism.
Yonemura K; Suzuki H; Fujigaki Y; Hishida A
Am J Med Sci; 2000 Nov; 320(5):334-6. PubMed ID: 11093687
[TBL] [Abstract][Full Text] [Related]
19. Tubular maximum for calcium reabsorption: lack of diagnostic usefulness in primary hyperparathyroidism and familial hypocalciuric hypercalcaemia.
Kent GN; Bhagat CI; Garcia-Webb P; Gutteridge DH
Clin Chim Acta; 1987 Jul; 166(2-3):155-61. PubMed ID: 3621596
[TBL] [Abstract][Full Text] [Related]
20. Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
Pidasheva S; Canaff L; Simonds WF; Marx SJ; Hendy GN
Hum Mol Genet; 2005 Jun; 14(12):1679-90. PubMed ID: 15879434
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]