228 related articles for article (PubMed ID: 16151858)
1. A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Chefetz I; Heller R; Galli-Tsinopoulou A; Richard G; Wollnik B; Indelman M; Koerber F; Topaz O; Bergman R; Sprecher E; Schoenau E
Hum Genet; 2005 Nov; 118(2):261-6. PubMed ID: 16151858
[TBL] [Abstract][Full Text] [Related]
2. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Benet-Pagès A; Orlik P; Strom TM; Lorenz-Depiereux B
Hum Mol Genet; 2005 Feb; 14(3):385-90. PubMed ID: 15590700
[TBL] [Abstract][Full Text] [Related]
3. The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.
Garringer HJ; Fisher C; Larsson TE; Davis SI; Koller DL; Cullen MJ; Draman MS; Conlon N; Jain A; Fedarko NS; Dasgupta B; White KE
J Clin Endocrinol Metab; 2006 Oct; 91(10):4037-42. PubMed ID: 16868048
[TBL] [Abstract][Full Text] [Related]
4. Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
Rafaelsen S; Johansson S; Ræder H; Bjerknes R
BMC Genet; 2014 Sep; 15():98. PubMed ID: 25249269
[TBL] [Abstract][Full Text] [Related]
5. Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
Specktor P; Cooper JG; Indelman M; Sprecher E
J Hum Genet; 2006; 51(5):487-490. PubMed ID: 16528452
[TBL] [Abstract][Full Text] [Related]
6. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.
Ichikawa S; Imel EA; Sorenson AH; Severe R; Knudson P; Harris GJ; Shaker JL; Econs MJ
J Clin Endocrinol Metab; 2006 Nov; 91(11):4472-5. PubMed ID: 16940445
[TBL] [Abstract][Full Text] [Related]
7. Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
Chakhtoura M; Ramnitz MS; Khoury N; Nemer G; Shabb N; Abchee A; Berberi A; Hourani M; Collins M; Ichikawa S; El Hajj Fuleihan G
Osteoporos Int; 2018 Sep; 29(9):1987-2009. PubMed ID: 29923062
[TBL] [Abstract][Full Text] [Related]
8. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
Ichikawa S; Lyles KW; Econs MJ
J Clin Endocrinol Metab; 2005 Apr; 90(4):2420-3. PubMed ID: 15687324
[TBL] [Abstract][Full Text] [Related]
9. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.
Larsson T; Yu X; Davis SI; Draman MS; Mooney SD; Cullen MJ; White KE
J Clin Endocrinol Metab; 2005 Apr; 90(4):2424-7. PubMed ID: 15687325
[TBL] [Abstract][Full Text] [Related]
10. Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
Farrow EG; Imel EA; White KE
Best Pract Res Clin Rheumatol; 2011 Oct; 25(5):735-47. PubMed ID: 22142751
[TBL] [Abstract][Full Text] [Related]
11. A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Topaz O; Indelman M; Chefetz I; Geiger D; Metzker A; Altschuler Y; Choder M; Bercovich D; Uitto J; Bergman R; Richard G; Sprecher E
Am J Hum Genet; 2006 Oct; 79(4):759-64. PubMed ID: 16960814
[TBL] [Abstract][Full Text] [Related]
12. Two novel GALNT3 mutations in familial tumoral calcinosis.
Garringer HJ; Mortazavi SM; Esteghamat F; Malekpour M; Boztepe H; Tanakol R; Davis SI; White KE
Am J Med Genet A; 2007 Oct; 143A(20):2390-6. PubMed ID: 17853462
[TBL] [Abstract][Full Text] [Related]
13. Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.
Folsom LJ; Imel EA
Curr Osteoporos Rep; 2015 Apr; 13(2):78-87. PubMed ID: 25656441
[TBL] [Abstract][Full Text] [Related]
14. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in
Kışla Ekinci RM; Gürbüz F; Balcı S; Bişgin A; Taştan M; Yüksel B; Yılmaz M
J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):94-99. PubMed ID: 30015621
[TBL] [Abstract][Full Text] [Related]
15. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.
Barbieri AM; Filopanti M; Bua G; Beck-Peccoz P
J Hum Genet; 2007; 52(5):464-468. PubMed ID: 17351710
[TBL] [Abstract][Full Text] [Related]
16. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
Chefetz I; Sprecher E
Biochim Biophys Acta; 2009 Sep; 1792(9):847-52. PubMed ID: 19013236
[TBL] [Abstract][Full Text] [Related]
17. A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.
Masi L; Gozzini A; Franchi A; Campanacci D; Amedei A; Falchetti A; Franceschelli F; Marcucci G; Tanini A; Capanna R; Brandi ML
J Bone Joint Surg Am; 2009 May; 91(5):1190-8. PubMed ID: 19411468
[TBL] [Abstract][Full Text] [Related]
18. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
Yancovitch A; Hershkovitz D; Indelman M; Galloway P; Whiteford M; Sprecher E; Kılıç E
J Bone Miner Metab; 2011 Sep; 29(5):621-5. PubMed ID: 21347749
[TBL] [Abstract][Full Text] [Related]
19. GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
Chefetz I; Kohno K; Izumi H; Uitto J; Richard G; Sprecher E
Biochim Biophys Acta; 2009 Jan; 1792(1):61-7. PubMed ID: 18976705
[TBL] [Abstract][Full Text] [Related]
20. [Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23].
Dereure O
Ann Dermatol Venereol; 2006 Apr; 133(4):408. PubMed ID: 16733465
[No Abstract] [Full Text] [Related]
[Next] [New Search]
