Yifat Zivony-Elboum

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Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause GPS. We demonstrated that human megakaryocytes and platelets express a unique combination of NBEAL2 transcripts. Proteomic analysis of(More)
BACKGROUND Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. METHODS The authors performed neurological and developmental examinations on the affected individuals. The authors(More)
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2(More)
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets on peripheral smears. GPS is associated with a bleeding tendency, myelofibrosis, and splenomegaly. Reports on GPS are limited to case presentations. The causative gene and underlying(More)
Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting(More)
Meral Gunay-Aygun,1,2 Yifat Zivony-Elboum,3 Fatma Gumruk,4 Dan Geiger,5 Mualla Cetin,4 Morad Khayat,3 Robert Kleta,1 Nehama Kfir,3 Yair Anikster,1 Judith Chezar,6 Mauricio Arcos-Burgos,1 Adel Shalata,3 Horia Stanescu,1 Joseph Manaster,6 Mutlu Arat,7 Hailey Edwards,1 Andrew S. Freiberg,8 P. Suzanne Hart,1 Lauren C. Riney,1 Katherine Patzel,1 Pranoot(More)
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