O. Topaz

发表

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.

Hanna Mandel, Eli Sprecher, H. Mandel, 2005, American journal of human genetics.

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

M. Indelman, R. Bergman, G. Richard, 2005, Human Genetics.

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

R. Bergman, E. Sprecher, O. Topaz, 2006, The American Journal of dermatopathology.

Absence of Intraepidermal Glycosyltransferase ppGalNac-T3 Expression in Familial Tumoral Calcinosis

R. Bergman, G. Richard, E. Sprecher, 2005, The American Journal of dermatopathology.

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

D. Behar, R. Bergman, G. Richard, 2005, Journal of Molecular Medicine.

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

D. Geiger, M. Indelman, D. Bercovich, 2006, American journal of human genetics.

Endomyocardial fibrosis with massive endocardial calcific deposits

O. Topaz, 1988, Clinical cardiology.

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

Mark George Thomas, N. Bradman, M. Indelman, 2008, The Journal of investigative dermatology.

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

D. Behar, M. Indelman, R. Bergman, 2004, Nature Genetics.

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

D. Behar, R. Bergman, G. Richard, 2005, Journal of Molecular Medicine.

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

Tom Haber, Lyora A. Cohen, E. Meyron-Holtz, 2012, Haematologica.

Sphingosine Derivatives, Calmodulin Inhibitors, and TMB-8: Inhibitors of Adenylate Cyclase Activity in Rat Luteal Membranes

O. Topaz, D. Barzilai, M. Lavah, 1991 .