| 1 | Functional characterization of SAMD9, a protein defic ient in normophosphatemic familial tumoral calcinosis. (21160498) | Hershkovitz D.... Sprecher E. | 2011 | EGR1, RGL2, SAMD9 |
| 2 | Familial tumoral calcinosis and hyperostosis-hyperpho sphataemia syndrome are different manifestations of the same disease: novel mis sense mutations in GALNT3. (19830424) | Joseph L.... Delaney D. | 2010 | GALNT3 |
| 3 | Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099) | Sprecher E. | 2010 | GALNT3 |
| 4 | Clinical variability of familial tumoral calcinosis c aused by novel GALNT3 mutations. (20358599) | Ichikawa S.... Econs M.J. | 2010 | GALNT3, FGF23 |
| 5 | Familial tumoral calcinosis: a forty-year follow-up on one family. (19255228) | Carmichael K.D.... Evans E.B. | 2009 | GALNT3 |
| 6 | Familial tumoral calcinosis and the role of O-glycosy lation in the maintenance of phosphate homeostasis. (19013236) | Chefetz I.... Sprecher E. | 2009 | GALNT3 |
| 7 | 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. (19188744) | Lammoglia J.J.... Mericq V. | 2009 | KL, GALNT3, FGF23 |
| 8 | GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705) | Chefetz I.... Sprecher E. | 2009 | GALNT3 |
| 9 | A case of familial tumoral calcinosis/hyperostosis-hy perphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demo nstrating new phenotypic features. (18982401) | Dumitrescu C.E.... Collins M.T. | 2009 | GALNT3 |
| 10 | Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. (18682534) | Garringer H.J.... White K.E. | 2008 | FGF23 |
| 11 | Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730) | Chefetz I.... Sprecher E. | 2008 | TNF, SAMD9 |
| 12 | Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462) | Garringer H.J.... White K.E. | 2007 | GALNT3 |
| 13 | SAMD9 mutation in normophosphatemic familial tumoral calcinosis (17507861) | Dereure O. | 2007 | SAMD9 |
| 14 | Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. (17351710) | Barbieri A.M.... Beck-Peccoz P. | 2007 | GALNT3 |
| 15 | A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814) | Topaz O.... Sprecher E. | 2006 | GALNT3, SAMD9 |
| 16 | Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. (16567474) | Campagnoli M.F.... Ramenghi U. | 2006 | GALNT3 |
| 17 | Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23 (16733465) | Dereure O. | 2006 | GALNT3, FGF23 |
| 18 | Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (16638743) | Kato K.... Clausen H. | 2006 | GALNT3, FGF23 |
| 19 | Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452) | Specktor P.... Sprecher E. | 2006 | GALNT3 |
| 20 | Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556) | Larsson T.... White K.E. | 2005 | FGF23 |
| 21 | A novel recessive mutation in fibroblast growth facto r-23 causes familial tumoral calcinosis. (15687325) | Larsson T.... White K.E. | 2005 | FGF23 |
| 22 | An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700) | Benet-Pages A.... Lorenz-Depiereux B. | 2005 | GALNT3, FGF23 |
| 23 | Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692) | Frishberg Y.... Sprecher E. | 2005 | GALNT3, GTDC2 |
| 24 | Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511) | Topaz O.... Sprecher E. | 2004 | GALNT3 |
