189 related articles for article (PubMed ID: 21347749)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S; Baujat G; Seyahi A; Garoufali AG; Imel EA; Padgett LR; Austin AM; Sorenson AH; Pejin Z; Topouchian V; Quartier P; Cormier-Daire V; Dechaux M; Malandrinou FCh; Singhellakis PN; Le Merrer M; Econs MJ
Am J Med Genet A; 2010 Apr; 152A(4):896-903. PubMed ID: 20358599
[TBL] [Abstract][Full Text] [Related]
7. Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Mahjoubi F; Ghadir M; Samanian S; Heydari I; Honardoost M
J Endocrinol Invest; 2020 Aug; 43(8):1125-1130. PubMed ID: 32125652
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
Frishberg Y; Topaz O; Bergman R; Behar D; Fisher D; Gordon D; Richard G; Sprecher E
J Mol Med (Berl); 2005 Jan; 83(1):33-8. PubMed ID: 15599692
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Dumitrescu CE; Kelly MH; Khosravi A; Hart TC; Brahim J; White KE; Farrow EG; Nathan MH; Murphey MD; Collins MT
Osteoporos Int; 2009 Jul; 20(7):1273-8. PubMed ID: 18982401
[TBL] [Abstract][Full Text] [Related]
13. Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
Albaramki J; Dmour H; Shboul M; Bonnard C; Venkatesh B; Odeh R
Turk J Pediatr; 2019; 61(1):130-133. PubMed ID: 31559735
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).
Vieira AR; Lee M; Vairo F; Loguercio Leite JC; Munerato MC; Visioli F; D'Ávila SR; Wang SK; Choi M; Simmer JP; Hu JC
Oral Surg Oral Med Oral Pathol Oral Radiol; 2015 Dec; 120(6):e235-9. PubMed ID: 26337219
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
