185 related articles for article (PubMed ID: 22722080)
1. A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.
Ertl DA; Stary S; Streubel B; Raimann A; Haeusler G
Bone; 2012 Sep; 51(3):629-32. PubMed ID: 22722080
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
Sunthornthepvarakul T; Churesigaew S; Ngowngarmratana S
J Clin Endocrinol Metab; 1999 Oct; 84(10):3792-6. PubMed ID: 10523031
[TBL] [Abstract][Full Text] [Related]
3. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
Parkinson DB; Thakker RV
Nat Genet; 1992 May; 1(2):149-52. PubMed ID: 1302009
[TBL] [Abstract][Full Text] [Related]
4. A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.
Lee S; Mannstadt M; Guo J; Kim SM; Yi HS; Khatri A; Dean T; Okazaki M; Gardella TJ; Jüppner H
J Bone Miner Res; 2015 Oct; 30(10):1803-13. PubMed ID: 25891861
[TBL] [Abstract][Full Text] [Related]
5. Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.
Sarin R; Tomar N; Ray D; Gupta N; Sharma YD; Goswami R
Clin Endocrinol (Oxf); 2006 Sep; 65(3):359-63. PubMed ID: 16918956
[TBL] [Abstract][Full Text] [Related]
6. Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
Cinque L; Sparaneo A; Penta L; Mencarelli A; Rogaia D; Esposito S; Fabrizio FP; Baorda F; Verrotti A; Falorni A; Stangoni G; Hendy GN; Guarnieri V; Prontera P
J Clin Endocrinol Metab; 2017 Nov; 102(11):3961-3969. PubMed ID: 28938448
[TBL] [Abstract][Full Text] [Related]
7. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
Pearce SH; Williamson C; Kifor O; Bai M; Coulthard MG; Davies M; Lewis-Barned N; McCredie D; Powell H; Kendall-Taylor P; Brown EM; Thakker RV
N Engl J Med; 1996 Oct; 335(15):1115-22. PubMed ID: 8813042
[TBL] [Abstract][Full Text] [Related]
8. Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism.
Goswami R; Mohapatra T; Gupta N; Rani R; Tomar N; Dikshit A; Sharma RK
J Clin Endocrinol Metab; 2004 Oct; 89(10):4840-5. PubMed ID: 15472173
[TBL] [Abstract][Full Text] [Related]
9. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.
Kinoshita Y; Hori M; Taguchi M; Watanabe S; Fukumoto S
J Clin Endocrinol Metab; 2014 Feb; 99(2):E363-8. PubMed ID: 24297799
[TBL] [Abstract][Full Text] [Related]
10. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
Canaff L; Zhou X; Mosesova I; Cole DE; Hendy GN
Hum Mutat; 2009 Jan; 30(1):85-92. PubMed ID: 18712808
[TBL] [Abstract][Full Text] [Related]
11. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B; Endo I; Ohnishi Y; Kondo T; Hasegawa T; Amizuka N; Kiyonari H; Shioi G; Abe M; Fukumoto S; Matsumoto T
J Bone Miner Res; 2015 Nov; 30(11):1980-93. PubMed ID: 25967373
[TBL] [Abstract][Full Text] [Related]
12. Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.
Gild ML; Bullock M; Luxford C; Field M; Clifton-Bligh RJ
J Clin Endocrinol Metab; 2020 Jul; 105(7):. PubMed ID: 32421798
[TBL] [Abstract][Full Text] [Related]
13. Successful pregnancies and reduced treatment requirement while breast feeding in a patient with congenital hypoparathyroidism due to homozygous c.68C>A null parathyroid hormone gene mutation.
Dixon J; Miller S
BMJ Case Rep; 2018 May; 2018():. PubMed ID: 29804071
[TBL] [Abstract][Full Text] [Related]
14. Hypoparathyroidism.
Al-Azem H; Khan AA
Best Pract Res Clin Endocrinol Metab; 2012 Aug; 26(4):517-22. PubMed ID: 22863393
[TBL] [Abstract][Full Text] [Related]
15. Hypoparathyroidism and central diabetes insipidus: in search of the link.
Eyal O; Oren A; Jüppner H; Somech R; De Bellis A; Mannstadt M; Szalat A; Bleiberg M; Weisman Y; Weintrob N
Eur J Pediatr; 2014 Dec; 173(12):1731-4. PubMed ID: 25367057
[TBL] [Abstract][Full Text] [Related]
16. [Familial hypoparathyroidism due to activating mutations in the calcium-sensing receptor gene].
Watanabe T; Minagawa M
Nihon Rinsho; 2002 Feb; 60(2):331-7. PubMed ID: 11857922
[TBL] [Abstract][Full Text] [Related]
17. 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; Ogata E
J Clin Endocrinol Metab; 2000 Dec; 85(12):4583-91. PubMed ID: 11134112
[TBL] [Abstract][Full Text] [Related]
18. [Regulation of parathyroid hormone in molecular biological aspect].
Tokumaru H; Seino Y
Nihon Rinsho; 1995 Apr; 53(4):811-6. PubMed ID: 7752465
[TBL] [Abstract][Full Text] [Related]
19. Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N; ter Braak M; Saffrich R; Woelfle J; Schmitz U
Mol Cell Endocrinol; 2015 May; 407():18-25. PubMed ID: 25766501
[TBL] [Abstract][Full Text] [Related]
20. Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Hawkes CP; Al Jubeh JM; Li D; Tucker SE; Rajiyah T; Levine MA
J Clin Endocrinol Metab; 2022 May; 107(6):e2449-e2458. PubMed ID: 35165722
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
