Search Results - "SHALMON, L"

Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients by TAMARY, H, BAR-YAM, R, ZAIZOV, R, SHALMON, L, RACHAVI, G, KROSTICHEVSKY, M, ELHASID, R, BARAK, Y, KAPELUSHNIK, J, YANIV, I, AUERBACH, A. D

“…Fanconi anaemia (FA) is a genetically heterogeneous disease with at least eight complementation groups (A-H). In the present study, we investigated the…”
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Molecular analysis of a compound heterozygote for hypoprothrombinemia and dysprothrombinemia (-G 7248/7249 and ARG 340 TRP) by Tamary, H, Surrey, S, Augustine, J, Shalmon, L, Schwartz, E, Rappaport, E F

“…Hypoprothrombinemia is an uncommon hereditary coagulation defect characterized by low levels of biologically active prothrombin. Automated fluorescence-based…”
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The Diverse Molecular Basis and Mild Clinical Picture of HbH Disease in Israel by TAMARY, H., KLINGER, G., SHALMON, L., KIRSCHMANN, H., KOREN, A., BENNET, M., ZAIZOV, R.

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Systematic use of automated fluorescence-based sequence analysis of amplified genomic DNA for rapid detection of point mutations by Tamary, H, Surrey, S, Kirschmann, H, Shalmon, L, Zaizov, R, Schwartz, E, Rappaport, E F

“…Several approaches are now available for screening populations for known mutations in a given gene. However, for detection of multiple mutations in a…”
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CATSPER2, a human autosomal nonsyndromic male infertility gene by Avidan, Nili, Tamary, Hannah, Dgany, Orly, Cattan, Daniel, Pariente, Alexandre, Thulliez, Michel, Borot, Nicolas, Moati, Lucien, Barthelme, Alain, Shalmon, Lea, Krasnov, Tatyana, Ben-Asher, Edna, Olender, Tsvyia, Khen, Miriam, Yaniv, Issac, Zaizov, Rina, Shalev, Hanna, Delaunay, Jean, Fellous, Marc, Lancet, Doron, Beckmann, Jacques S

“…In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French…”
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Localization of the Gene for Congenital Dyserythropoietic Anemia Type I to a <1-cM Interval on Chromosome 15q15.1-15.3 by Tamary, Hannah, Shalmon, Lea, Shalev, Hanna, Halil, Albudar, Dobrushin, Dina, Ashkenazi, Noga, Zoldan, Meira, Resnitzky, Peretz, Korostishevsky, Michael, Bonne-Tamir, Batsheva, Zaizov, Rina

“…Congenital dyserythropoietic anemias (CDA) are a rare group of red-blood-cell disorders of unknown etiology that are characterized by ineffective…”
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Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs by Tamary, Hannah, Dgany, Orly, Toledano, Helen, Shalev, Zvi, Krasnov, Tatyana, Shalmon, Lea, Schechter, Tali, Bercovich, Dani, Attias, Dina, Laor, Ruth, Koren, Ariel, Yaniv, Isaac

“…: Objectives:  In a previous study, we investigated the molecular basis of Fanconi anemia (FA) in 13 unrelated Israeli Jewish FA patients and identified four…”
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Genetic characterization of sickle-cell anemia in Israeli Arabs by Kirschmann, C, Shalmon, L, Goshen, Y, Zaizov, R

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Clinical Features and Studies of Erythropoiesis in Israeli Bedouins With Congenital Dyserythropoietic Anemia Type I by Tamary, Hannah, Shalev, Hanna, Luria, Drorit, Shaft, Dina, Zoldan, Meira, Shalmon, Lea, Gruinspan, Ana, Stark, Batya, Chaison, Marta, Shinar, Eilat, Resnitzky, Peretz, Zaizov, Rina

“…Congenital dyserythropoietic anemia (CDA) type I is a rare macrocytic anemia of unknown etiology. In the present study, we redefined the clinical and…”
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The molecular biology of Fanconi anemia by Tamary, Hannah, Bar-Yam, Raanan, Zemach, Michal, Dgany, Orly, Shalmon, Lea, Yaniv, Isaac

“…Fanconi anemia is a rare autosomal recessive disorder characterized clinically by congenital abnormalities, progressive bone marrow failure, and a…”
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Fanconi anaemia group A (FANCA) mutations in Israeli non‐Ashkenazi Jewish patients by Tamary, H., Bar‐Yam, R., Shalmon, L., Rachavi, G., Krostichevsky, M., Elhasid, R., Barak, Y., Kapelushnik, J., Yaniv, I., Auerbach, A. D., Zaizov, R.

“…Fanconi anaemia (FA) is a genetically heterogeneous disease with at least eight complementation groups (A–H). In the present study, we investigated the…”
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Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews by Tamary, H, Fromovich, Y, Shalmon, L, Reich, Z, Dym, O, Lanir, N, Brenner, B, Paz, M, Luder, A S, Blau, O, Korostishevsky, M, Zaizov, R, Seligsohn, U

“…We investigated the molecular basis for factor VII (FVII) deficiency in Israel and found that 13 patients were homozygous and 10 heterozygous for a C to T…”
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A new deletional alpha-thalassemia detected in Yemenites with hemoglobin H disease by Shalmon, L, Kirschmann, C, Zaizov, R

“…A new large deletion from the human alpha-globin gene cluster is characterized. It involves at least 39 kb and includes the two alpha-globin genes, the theta…”
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α-Thalassemia Caused by a 16 BP Deletion in the 3′ Untranslated Region of the α2-Globin Gene Including the First Nucleotide of the Poly a Signal Sequence by Tamary, H., Klinger, G., Shalmon, L., Attias, D., Fortina, P., Kobayashi, M., Surrey, S., Zaizov, R.

“…We have identified a 16 bp deletion in the 3 untranslated region of the α2-globin gene, including the first nucleotide of the polyadenylation signal sequence…”
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Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I by Tamary, H, Shalev, H, Luria, D, Shaft, D, Zoldan, M, Shalmon, L, Gruinspan, A, Stark, B, Chaison, M, Shinar, E, Resnitzky, P, Zaizov, R

“…Congenital dyserythropoietic anemia (CDA) type I is a rare macrocytic anemia of unknown etiology. In the present study, we redefined the clinical and…”
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Alpha-thalassemia genes in Israel: deletional and nondeletional mutations in patients of various origins by Shalmon, L, Kirschmann, C, Zaizov, R

“…The alpha-thalassemia mutations in 34 Jewish patients of various origins and in 13 Arab patients have been identified using DNA technologies. Middle Eastern…”
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alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence by Tamary, H, Klinger, G, Shalmon, L, Attias, D, Fortina, P, Kobayashi, M, Surrey, S, Zaizov, R

“…We have identified a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene, including the first nucleotide of the polyadenylation signal…”
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Molecular characterization of four novel mutations causing factor VII deficiency by Tamary, H, Fromovich-Amit, Y, Shalmon, L, Zaizov, R, Yaniv, I, Klar, A, Peretz, H, Brenner, B, Lanir, N, Zivelin, A, Seligsohn, U

“…Hereditary deficiency of factor VII (FVII) is a rare coagulation defect. We previously studied the molecular basis of the FVII deficiency in Israeli patients…”
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Synthesis of surface immunoglobulin by lymphocyte leukemia cells in vitro by Moroz, C, Shalmon, L, Hahn, J

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