Topaz O - Search Results

1

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Among authors: topaz o, o brien tj. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.

2

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. Chefetz I, et al. Among authors: topaz o. Hum Genet. 2005 Nov;118(2):261-6. doi: 10.1007/s00439-005-0026-8. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16151858

3

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. Topaz O, et al. Am J Hum Genet. 2006 Oct;79(4):759-64. doi: 10.1086/508069. Epub 2006 Aug 24. Am J Hum Genet. 2006. PMID: 16960814 Free PMC article.

4

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. Topaz O, et al. Nat Genet. 2004 Jun;36(6):579-81. doi: 10.1038/ng1358. Epub 2004 May 9. Nat Genet. 2004. PMID: 15133511

5

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. Topaz O, et al. Am J Dermatopathol. 2005 Jun;27(3):211-5. doi: 10.1097/01.dad.0000158298.02545.a5. Am J Dermatopathol. 2005. PMID: 15900124

6

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E. Chefetz I, et al. Among authors: topaz o. J Invest Dermatol. 2008 Jun;128(6):1423-9. doi: 10.1038/sj.jid.5701203. Epub 2007 Dec 20. J Invest Dermatol. 2008. PMID: 18094730 Free PMC article.

7

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. Frishberg Y, et al. Among authors: topaz o. J Mol Med (Berl). 2005 Jan;83(1):33-8. doi: 10.1007/s00109-004-0610-8. Epub 2004 Dec 15. J Mol Med (Berl). 2005. PMID: 15599692

8

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. Bergman R, et al. Among authors: topaz o. Am J Dermatopathol. 2006 Aug;28(4):372-3. doi: 10.1097/00000372-200608000-00017. Am J Dermatopathol. 2006. PMID: 16871046 No abstract available.

9

Physiologically aged red blood cells undergo erythrophagocytosis in vivo but not in vitro.

Gottlieb Y, Topaz O, Cohen LA, Yakov LD, Haber T, Morgenstern A, Weiss A, Chait Berman K, Fibach E, Meyron-Holtz EG. Gottlieb Y, et al. Among authors: topaz o. Haematologica. 2012 Jul;97(7):994-1002. doi: 10.3324/haematol.2011.057620. Epub 2012 Feb 13. Haematologica. 2012. PMID: 22331264 Free PMC article.

10

Percutaneous photoacoustic debulking of infra-inguinal atherosclerotic disease- early European experience with a novel, solid-state, pulsed -wave, ultraviolet 355 nm laser.

Kuczmik W, Oszkinis G, Kruszyna Ł, Stanisić MG, Zelawski W, Kostecki J, Planer D, R Leon L Jr, Muncher Y, Cohen O, Topaz O. Kuczmik W, et al. Among authors: topaz o. Lasers Med Sci. 2025 Jan 2;40(1):4. doi: 10.1007/s10103-024-04216-7. Lasers Med Sci. 2025. PMID: 39743624 Free PMC article. Clinical Trial.

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