- Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian JewsH Tamary
Pediatric Hematology Oncology Center, Schneider Children s Medical Center of Israel
Thromb Haemost 76:283-91. 1996..5 in Moroccan Jews and 1:40 in Iranian Jews. As Moroccan Jews have been separated from Iranian Jews for more than two millennia, the data suggest that the Ala244Val mutation occurred in ancient times...
- Molecular characterization of four novel mutations causing factor VII deficiencyH Tamary
Pediatric Hematology Oncology Center, Schneider Children s Medical Center of Israel, 14 Kaplan Street, Petah Tiqva 49 202, Israel
Hematol J 1:382-9. 2000..We previously studied the molecular basis of the FVII deficiency in Israeli patients and found that the majority of them bore the Ala244Val mutation. In the present study we further analysed FVII deficient patients...
- Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patientsH Tamary
Institute of Haematology oncology, Schneider Children s Medical Centre of Israel, Petah Tiqva
Br J Haematol 111:338-43. 2000..Two 'Indian mutation' carriers were identified among 53 Indian Jews. All carriers within each ethnic group had the same haplotype, suggesting a common founder for each mutation...
- A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantationH Tamary
Pediatric Hematology Oncology Center and Imaging Department, Schneider Children s Medical Center of Israel, Petah Tiqva, Israel
Eur J Haematol 71:196-203. 2003....
- Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3H Tamary
Pediatric Hematology Oncology Center, Schneider Children s Medical Center of Israel, Beilinson Campus, Petah Tiqva, Israel
Am J Hum Genet 62:1062-9. 1998..2, the only known erythroid-specific gene in the locus, did not reveal any change in the CDA type I patients. Future analysis of this locus may lead to the identification of a gene essential to normal erythropoiesis...
- Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type IH Tamary
Pediatric Hematology Oncology Center, Schneider s Children s Medical Center of Israel, Petah Tiqva
Blood 87:1763-70. 1996..The ultrastructural morphological features of the erythroid precursors, showing peripheral chromatin condensation, suggest apoptosis. Additional studies are indicated to define the molecular basis of this disease...
- Reversal of cardiac complications in thalassemia major by long-term intermittent daily intensive iron chelationH Miskin
Department of Pediatric Hematology Oncology, Schneider Children s Medical Center of Israel, Petah Tiqva, Israel
Eur J Haematol 70:398-403. 2003..v.) catheter is effective in reversing cardiac toxicity. The aim of the present study was to evaluate the results with intermittent daily (8-10 h) i.v. DFO...
- Low serum C3, leukopenia, and thrombocytopenia: unusual features of henoch-schonlein purpuraI Krause
Nephrology Clinic and Dialysis Unit, Schneider Children s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petah Tiqva, Israel
Eur J Pediatr 158:906-9. 1999..These findings may further support the importance of complement activation in the pathogenesis of HSP...
- Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patientsY Fromovich-Amit
Amalia Biron Research Institute of Thrombosis and Haemostasis, Chaim Sheba Medical Center, Tel Hashomer, Israel
J Thromb Haemost 2:1774-81. 2004..Coexpression of Ala294Val and Arg353Gln, a polymorphism known to affect FVII secretion, did not reveal an additive effect on FVII secretion, while coexpression of Ala244Val and Arg353Gln did yield an additive effect...
- Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adultsH Shalev
Department of Pediatrics, Soroka Medical Center, Faculty of Medicine, Ben Gurion University of the Negev, Beer Sheva, Israel
Eur J Haematol 68:170-4. 2002..Congenital dyserythropoietic anemia (CDA) type I is a rare autosomal recessive macrocytic anemia whose natural history is not well documented. The aim of the present study was to evaluate the clinical picture of the disease in young adults...
- Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1)H Tamary
Hematology Unit, Center of Pediatrics, Hematology Oncology, Schneider s Medical Center of Israel, Petah Tikva, Israel
Eur J Haematol 80:271-4. 2008..This second case of retinal angioid streaks reported in CDA I adds to the non-haematological features likely to be associated with this condition...