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Items: 1 to 20 of 120

1.

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):487-90. Epub 2006 Mar 10.

PMID:
16528452
2.

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):464-8. Epub 2007 Mar 10.

PMID:
17351710
3.

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 15;143A(20):2390-6.

PMID:
17853462
4.

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. Epub 2004 Dec 15. Erratum in: J Mol Med. 2005 Mar;83(3):240.

PMID:
15599692
5.

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. Epub 2005 Nov 15.

PMID:
16151858
6.

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. doi: 10.1007/s00774-011-0260-1. Epub 2011 Feb 25.

PMID:
21347749
7.

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.

Campagnoli MF, Pucci A, Garelli E, Carando A, Defilippi C, Lala R, Ingrosso G, Dianzani I, Forni M, Ramenghi U.

J Clin Pathol. 2006 Apr;59(4):440-2.

8.

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E.

Nat Genet. 2004 Jun;36(6):579-81. Epub 2004 May 9.

PMID:
15133511
10.

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 1;14(3):385-90. Epub 2004 Dec 8.

PMID:
15590700
11.

Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis.

Topaz O, Bergman R, Mandel U, Maor G, Goldberg R, Richard G, Sprecher E.

Am J Dermatopathol. 2005 Jun;27(3):211-5.

PMID:
15900124
12.

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

Laleye A, Alao MJ, Gbessi G, Adjagba M, Marche M, Coupry I, Redonnet-Vernhet I, Lepreux S, Ayivi B, Darboux RB, Lacombe D, Arveiler B.

Genet Couns. 2008;19(2):183-92.

PMID:
18618993
13.

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. Epub 2005 Feb 1.

PMID:
15687324
14.

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. doi: 10.1002/ajmg.a.33337.

15.

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. Epub 2006 Jul 25.

PMID:
16868048
16.

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.

17.

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. Epub 2006 Aug 29.

PMID:
16940445
18.

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. doi: 10.1016/j.bbadis.2008.09.016. Epub 2008 Oct 11.

19.

Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3.

Bergman R, Topaz O, Iancu TC, Sprecher E.

Am J Dermatopathol. 2006 Aug;28(4):372-3. No abstract available.

PMID:
16871046
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. French. No abstract available.

PMID:
16733465

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