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Natalia Vasserman
Researcher at University of Washington
Publications - 3
Citations - 644
Natalia Vasserman is an academic researcher from University of Washington. The author has contributed to research in topics: Compound heterozygosity & Genetic linkage. The author has an hindex of 3, co-authored 3 publications receiving 615 citations.
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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Oleg V. Evgrafov,Irena Mersiyanova,Joy Irobi,Ludo Van Den Bosch,Ines Dierick,Conrad L. Leung,Olga Schagina,Nathalie Verpoorten,Katrien Van Impe,V P Fedotov,Elena L. Dadali,Michaela Auer-Grumbach,Christian Windpassinger,Klaus Wagner,Zoran Mitrović,David Hilton-Jones,Kevin Talbot,Jean-Jacques Martin,Natalia Vasserman,Svetlana Tverskaya,A. V. Polyakov,Ronald K.H. Liem,Jan Gettemans,Wim Robberecht,Peter De Jonghe,Vincent Timmerman +25 more
TL;DR: A missense mutation in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1, also called HSP27) that segregates in the family with CMT2F is reported and four additional missense mutations are identified.
Journal ArticleDOI
Nijmegen breakage syndrome: Clinical characteristics and mutation analysis in eight unrelated Russian families
Igor B. Resnick,Irina Kondratenko,Oleg Togoev,Natalia Vasserman,Irena Shagina,Oleg Evgrafov,Svetlana Tverskaya,Karen M. Cerosaletti,Richard A. Gatti,Patrick Concannon +9 more
TL;DR: The surprising finding of bone marrow aplasia or AML in 3 of 7 patients raises the possibility of a connection between NBS and another DNA damage disorder, Fanconi anemia.
Journal ArticleDOI
Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.
Natalia Vasserman,Luisa M. Karzakova,Svetlana Tverskaya,Vladimir N. Saperov,Olga M. Muchukova,Galina P. Pavlova,Nadejda K. Efimova,Natalia N. Vankina,Oleg V. Evgrafov +8 more
TL;DR: In an attempt to locate the gene responsible for familial benign polycythemia, linkage studies in 12 Chuvash families, with 35 affected and 32 unaffected members were carried out, and the FBP gene was assigned to the region of chromosome 11q23 between D11S4142 andD11S1356.