Publications by authors named "Orit Topaz"

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Physiologically aged red blood cells undergo erythrophagocytosis in vivo but not in vitro.
Yehonatan Gottlieb, Orit Topaz, Lyora A Cohen, Liat David Yakov, Tom Haber

Haematologica· July 2012

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Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Ilana Chefetz, Danny Ben Amitai, Sarah Browning, Karl Skorecki, Noam Adir, Orit Topaz

J Invest Dermatol· June 2008

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A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Orit Topaz, Margarita Indelman, Ilana Chefetz, Dan Geiger, Aryeh Metzker

Am J Hum Genet· October 2006

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Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3.
Reuven Bergman, Orit Topaz, Theodore C Iancu, Eli Sprecher

Am J Dermatopathol· August 2006

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A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Ilana Chefetz, Raoul Heller, Assimina Galli-Tsinopoulou, Gabriele Richard, Bernd Wollnik, Orit Topaz

Hum Genet· November 2005

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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.
Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Orit Topaz

Am J Hum Genet· August 2005

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Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis.
Orit Topaz, Reuven Bergman, Ulla Mandel, Gila Maor, Ruth Goldberg

Am J Dermatopathol· June 2005

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Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
Yaacov Frishberg, Orit Topaz, Reuven Bergman, Doron Behar, Drora Fisher

J Mol Med (Berl)· January 2005

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Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
Orit Topaz, Daniel L Shurman, Reuven Bergman, Margarita Indelman, Paulina Ratajczak

Nat Genet· June 2004

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