310 related articles for article (PubMed ID: 18982401)
1. 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]
2. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
Ichikawa S; Guigonis V; Imel EA; Courouble M; Heissat S; Henley JD; Sorenson AH; Petit B; Lienhardt A; Econs MJ
J Clin Endocrinol Metab; 2007 May; 92(5):1943-7. PubMed ID: 17311862
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz MS; Gourh P; Goldbach-Mansky R; Wodajo F; Ichikawa S; Econs MJ; White KE; Molinolo A; Chen MY; Heller T; Del Rivero J; Seo-Mayer P; Arabshahi B; Jackson MB; Hatab S; McCarthy E; Guthrie LC; Brillante BA; Gafni RI; Collins MT
J Bone Miner Res; 2016 Oct; 31(10):1845-1854. PubMed ID: 27164190
[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. A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.
Olauson H; Krajisnik T; Larsson C; Lindberg B; Larsson TE
Eur J Endocrinol; 2008 Jun; 158(6):929-34. PubMed ID: 18322299
[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. 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]
8. 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]
9. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
Ichikawa S; Sorenson AH; Austin AM; Mackenzie DS; Fritz TA; Moh A; Hui SL; Econs MJ
Endocrinology; 2009 Jun; 150(6):2543-50. PubMed ID: 19213845
[TBL] [Abstract][Full Text] [Related]
10. Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer.
Lammoglia JJ; Mericq V
Horm Res; 2009; 71(3):178-84. PubMed ID: 19188744
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
Claramunt-Taberner D; Bertholet-Thomas A; Carlier MC; Dijoud F; Chotel F; Silve C; Bacchetta J
Pediatr Nephrol; 2018 Jul; 33(7):1263-1267. PubMed ID: 29594503
[TBL] [Abstract][Full Text] [Related]
15. Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.
Frishberg Y; Ito N; Rinat C; Yamazaki Y; Feinstein S; Urakawa I; Navon-Elkan P; Becker-Cohen R; Yamashita T; Araya K; Igarashi T; Fujita T; Fukumoto S
J Bone Miner Res; 2007 Feb; 22(2):235-42. PubMed ID: 17129170
[TBL] [Abstract][Full Text] [Related]
16. A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).
Abbasi F; Ghafouri-Fard S; Javaheri M; Dideban A; Ebrahimi A; Ebrahim-Habibi A
Gene; 2014 Jun; 542(2):269-71. PubMed ID: 24680727
[TBL] [Abstract][Full Text] [Related]
17. A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT; Head RA; Jeyabalan J; Evans H; Hough TA; Cheeseman MT; McNally EG; Carr AJ; Thomas GP; Brown MA; Croucher PI; Brown SD; Cox RD; Thakker RV
PLoS One; 2012; 7(8):e43205. PubMed ID: 22912827
[TBL] [Abstract][Full Text] [Related]
18. Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
Ito N; Fukumoto S
Calcif Tissue Int; 2021 Jan; 108(1):104-115. PubMed ID: 31965220
[TBL] [Abstract][Full Text] [Related]
19. Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.
Goldenstein PT; Neves PD; Balbo BE; Elias RM; Pereira AC; Onuchic LF; Jüppner H; Jorgetti V; Abensur H; Moysés RM
Am J Kidney Dis; 2018 Sep; 72(3):457-461. PubMed ID: 29548779
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
