BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

532 related articles for article (PubMed ID: 15241791)

  • 1. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Pidasheva S; D'Souza-Li L; Canaff L; Cole DE; Hendy GN
    Hum Mutat; 2004 Aug; 24(2):107-11. PubMed ID: 15241791
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
    Felderbauer P; Hoffmann P; Klein W; Bulut K; Ansorge N; Epplen JT; Schmitz F; Schmidt WE
    Exp Clin Endocrinol Diabetes; 2005 Jan; 113(1):31-4. PubMed ID: 15662592
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. Calcium-sensing receptor and associated diseases.
    Hendy GN; Guarnieri V; Canaff L
    Prog Mol Biol Transl Sci; 2009; 89():31-95. PubMed ID: 20374733
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
    Hannan FM; Thakker RV
    Best Pract Res Clin Endocrinol Metab; 2013 Jun; 27(3):359-71. PubMed ID: 23856265
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
    Cole DE; Yun FH; Wong BY; Shuen AY; Booth RA; Scillitani A; Pidasheva S; Zhou X; Canaff L; Hendy GN
    J Mol Endocrinol; 2009 Apr; 42(4):331-9. PubMed ID: 19179454
    [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 calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?
    Felderbauer P; Klein W; Bulut K; Ansorge N; Dekomien G; Werner I; Epplen JT; Schmitz F; Schmidt WE
    Scand J Gastroenterol; 2006 Mar; 41(3):343-8. PubMed ID: 16497624
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations.
    Felderbauer P; Hoffmann P; Einwächter H; Bulut K; Ansorge N; Schmitz F; Schmidt WE
    BMC Gastroenterol; 2003 Nov; 3():34. PubMed ID: 14641934
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. The role of the extracellular calcium-sensing receptor in health and disease.
    Raue F; Haag C; Schulze E; Frank-Raue K
    Exp Clin Endocrinol Diabetes; 2006 Sep; 114(8):397-405. PubMed ID: 17039419
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.
    Hirai H; Nakajima S; Miyauchi A; Nishimura K; Shimizu N; Shima M; Michigami T; Ozono K; Okada S
    J Hum Genet; 2001; 46(1):41-4. PubMed ID: 11289719
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Familial hypercalcemia and hypophosphatemia: importance in differential diagnosis of disorders in calcium-phosphate metabolism].
    Zofková I
    Vnitr Lek; 2010 May; 56(5):397-401. PubMed ID: 20578589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
    Mayr B; Schnabel D; Dörr HG; Schöfl C
    Eur J Endocrinol; 2016 May; 174(5):R189-208. PubMed ID: 26646938
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 27.