Search Results - "Steinberg‐Shemer, Orna"

Splenectomy in childhood for non‐malignant haematologic disorders – long‐term follow‐up shows minimal adverse effects by Yacobovich, Joanne, Barzilai‐Birenboim, Shlomit, Steinberg‐Shemer, Orna, Stark, Pinhas, Pazgal, Idit, Tamary, Hannah

“…Summary Splenectomy is considered therapeutic in various non‐malignant haematologic diseases. Adverse events ‒ specifically infections and thromboembolism ‒…”
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Excellent response to treatment with hydroxychloroquine in pediatric patients with SLE‐related immune thrombocytopenia by Brik‐Simon, Dafna, Efros, Orly, Levinsky, Yoel, Amarilyo, Gil, Tirosh, Irit, Levy‐Mendelovich, Sarina, Steinberg‐Shemer, Orna, Izraeli, Shai, Yacobovich, Joanne, Gilad, Oded

“…Background Pediatric immune thrombocytopenia (ITP) may precede systemic autoimmune disorders. In adolescent patients with ITP, routine screening for systemic…”
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Cerebral sinus venous thrombosis in children with inherited bleeding disorders: A case series by Sheikh, Irtiza N., Srivaths, Lakshmi, Li, Emma, Steinberg‐Shemer, Orna, Mandel‐Shorer, Noa, Kenet, Gili, Barg, Assaf A.

“…In patients with inherited bleeding disorders, thrombus development poses a challenge in balancing the management of thrombosis and bleeding. Pediatric…”
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Incorporation of somatic panels for the detection of haematopoietic transformation in children and young adults with leukaemia predisposition syndromes and with acquired cytopenias by Noy‐Lotan, Sharon, Krasnov, Tanya, Dgany, Orly, Jeison, Marta, Yanir, Asaf D., Gilad, Oded, Toledano, Helen, Barzilai‐Birenboim, Shlomit, Yacobovich, Joanne, Izraeli, Shai, Tamary, Hannah, Steinberg‐Shemer, Orna

“…Summary Detection of somatic mutations may help verify the diagnosis of myelodysplastic syndrome (MDS) in patients with persistent cytopenias or with…”
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Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene by Goldberg, Lior, Simon, Amos J., Rechavi, Gideon, Lev, Atar, Barel, Ortal, Kunik, Vered, Toren, Amos, Schiby, Ginette, Tamary, Hannah, Steinberg‐Shemer, Orna, Somech, Raz

“…Background The SRP54 (signal recognition protein 54) is a conserved component of the ribonucleoprotein complex that mediates cotranslational targeting and…”
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Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2 by Steinberg-Shemer, Orna, Yacobovich, Joanne, Noy-Lotan, Sharon, Dgany, Orly, Krasnov, Tanya, Barg, Assaf, Landau, Yuval E, Kneller, Katya, Somech, Raz, Gilad, Oded, Brik Simon, Dafna, Orenstein, Naama, Izraeli, Shai, Del Caño-Ochoa, Francisco, Tamary, Hannah, Ramón-Maiques, Santiago

“…Biallelic pathogenic variants in CAD, that encode the multienzymatic protein required for de-novo pyrimidine biosynthesis, cause early infantile epileptic…”
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Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome by Yanir, Asaf D., Krauss, Aviva, Stein, Jerry, Steinberg‐Shemer, Orna, Gilad, Oded, Lotan, Sharon Noy, Dgany, Orly, Krasnov, Tatyana, Kodman, Yona, Feuerstein, Tamar, Mardoukh, Jacques, Fishman, Hila, Geron, Ifat, Yacobovich, Joanne, Tamary, Hannah, Birger, Yehudit, Avrahami, Galia, Izraeli, Shai, Birenboim, Shlomit Barzilai

“…Background Inflammatory manifestations (IM) are well described in adult patients with myelodysplastic syndrome (MDS), but the presentation is highly variable…”
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Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel by Yeshareem, Lital, Yacobovich, Joanne, Lebel, Asaf, Noy‐Lotan, Sharon, Dgany, Orly, Krasnov, Tanya, Berger Pinto, Galit, Oniashvili, Nino, Mardoukh, Jacques, Bielorai, Bella, Laor, Ruth, Mandel‐Shorer, Noa, Ben Barak, Ayelet, Levin, Carina, Asleh, Mahdi, Miskin, Hagit, Revel‐Vilk, Shoshana, Levin, Dror, Benish, Marganit, Zuckerman, Tsila, Wolach, Ofir, Pazgal, Idit, Brik Simon, Dafna, Gilad, Oded, Yanir, Asaf David, Goldberg, Tracie Alison, Izraeli, Shai, Tamary, Hannah, Steinberg‐Shemer, Orna

“…Background Congenital neutropenias are characterized by severe infections and a high risk of myeloid transformation; the causative genes vary across…”
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Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias by Shefer Averbuch, Noa, Steinberg‐Shemer, Orna, Dgany, Orly, Krasnov, Tanya, Noy‐Lotan, Sharon, Yacobovich, Joanne, Kuperman, Amir A., Kattamis, Antonis, Ben Barak, Ayelet, Roth‐Jelinek, Batia, Chubar, Evgeni, Shabad, Evelyn, Dufort, Gustavo, Ellis, Martin, Wolach, Ofir, Pazgal, Idit, Abu Quider, Abed, Miskin, Hagit, Tamary, Hannah

“…Background Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias,…”
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Essential thrombocythemia A retrospective case series by Barg, Assaf Arie, Toren, Amos, Tamary, Hannah, Yacobovich, Joanne, Steinberg‐Shemer, Orna, Gilad, Oded, Goldstein, Gal, Miskin, Hagit, Revel‐Vilk, Shoshana, Rosenbeg, Nurit, Kenet, Gili, Zemer, Vered Shkalim

“…Background Essential thrombocythemia (ET) is rare in children, and pediatric guidelines are lacking. Therefore, we aimed to evaluate ET diagnosis and treatment…”
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Evaluating platelet function disorders in children with bleeding tendency - A single center study by Tanous, Osama, Steinberg Shemer, Orna, Yacobovich, Joanne, Zoldan, Meira, Horovitz, Yoseph, Yaniv, Isaac, Rabizadeh, Esther, Tamary, Hannah, Nakav, Sigal, Lahav, Judith

“…Platelet function disorders (PFDs) are a common cause of mild bleeding tendency. However, they cannot be recognized by standard screening studies. The gold…”
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Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1 by Seo, Aaron, Steinberg-Shemer, Orna, Unal, Sule, Casadei, Silvia, Walsh, Tom, Gumruk, Fatma, Shalev, Stavit, Shimamura, Akiko, Akarsu, Nurten Ayse, Tamary, Hannah, King, Mary-Claire

“…BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during…”
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Clinical and Laboratory Characteristics of Pediatric Patients With ACKR1/DARC ‐Associated Neutropenia by Oz‐Alcalay, Lital, Steinberg‐Shemer, Orna, Elron, Eyal, Dvori, Michal, Elitzur, Sarah, Dgany, Orly, Noy‐Lotan, Sharon, Krasnov, Tanya, Tamary, Hannah, Brik‐Simon, Dafna, Yacobovich, Joanne, Gilad, Oded

“…ABSTRACT Background ACKR1/DARC‐associated neutropenia (ADAN), resulting from homozygosity for a single nucleotide polymorphism (SNP) in the ACKR1/DARC gene…”
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Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency by Rein, Avigail, Geron, Ifat, Kugler, Eitan, Fishman, Hila, Gottlieb, Eyal, Abramovich, Ifat, Giladi, Amir, Amit, Ido, Mulet-Lazaro, Roger, Delwel, Ruud, Gröschel, Stefan, Levin-Zaidman, Smadar, Dezorella, Nili, Holdengreber, Vered, Rao, Tata Nageswara, Yacobovich, Joanne, Steinberg-Shemer, Orna, Huang, Qiu-Hua, Tan, Yun, Chen, Sai-Juan, Izraeli, Shai, Birger, Yehudit

“…Mono-allelic germline disruptions of the transcription factor GATA2 result in a propensity for developing myelodysplastic syndrome (MDS) and acute myeloid…”
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Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population by Steinberg-Shemer, Orna, Goldberg, Tracie A, Yacobovich, Joanne, Levin, Carina, Koren, Ariel, Revel-Vilk, Shoshana, Ben-Ami, Tal, Kuperman, Amir A, Zemer, Vered Shkalim, Toren, Amos, Kapelushnik, Joseph, Ben-Barak, Ayelet, Miskin, Hagit, Krasnov, Tanya, Noy-Lotan, Sharon, Dgany, Orly, Tamary, Hannah

“…Fanconi anemia (FA), an inherited bone marrow failure (BMF) syndrome, caused by mutations in DNA repair genes, is characterized by congenital anomalies,…”
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Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children by Gilad, Oded, Dgany, Orly, Noy-Lotan, Sharon, Krasnov, Tanya, Yacobovich, Joanne, Rabinowicz, Ron, Goldberg, Tracie, Kuperman, Amir A, Abu-Quider, Abed, Miskin, Hagit, Kapelushnik, Noa, Mandel-Shorer, Noa, Shimony, Shai, Harlev, Dan, Ben-Ami, Tal, Adam, Etai, Levin, Carina, Aviner, Shraga, Elhasid, Ronit, Berger-Achituv, Sivan, Chaitman-Yerushalmi, Lilach, Kodman, Yona, Oniashvilli, Nino, Hameiri-Grosman, Michal, Izraeli, Shai, Tamary, Hannah, Steinberg-Shemer, Orna

“…Prolonged cytopenias are a non-specific sign with a wide differential diagnosis. Among inherited disorders, cytopenias predisposing to leukemia require a…”
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Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells by Giani, Felix C., Fiorini, Claudia, Wakabayashi, Aoi, Ludwig, Leif S., Salem, Rany M., Jobaliya, Chintan D., Regan, Stephanie N., Ulirsch, Jacob C., Liang, Ge, Steinberg-Shemer, Orna, Guo, Michael H., Esko, Tõnu, Tong, Wei, Brugnara, Carlo, Hirschhorn, Joel N., Weiss, Mitchell J., Zon, Leonard I., Chou, Stella T., French, Deborah L., Musunuru, Kiran, Sankaran, Vijay G.

“…Multipotent and pluripotent stem cells are potential sources for cell and tissue replacement therapies. For example, stem cell-derived red blood cells (RBCs)…”
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Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis by Steinberg-Shemer, Orna, Orenstein, Naama, Krasnov, Tanya, Noy-Lotan, Sharon, Marcoux, Nathaly, Dgany, Orly, Yacobovich, Joanne, Gilad, Oded, Shabad, Evelyn, Basel-Salmon, Lina, Tamary, Hannah

“…The transcription factor MEIS1 (myeloid ectotrophic insertion site 1) is crucial for the maintenance of hematopoietic stem cells and for megakaryopoiesis…”
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Cdan1 Is Essential for Primitive Erythropoiesis by Noy-Lotan, Sharon, Dgany, Orly, Marcoux, Nathaly, Atkins, Ayelet, Kupfer, Gary M., Bosques, Linette, Gottschalk, Christine, Steinberg-Shemer, Orna, Motro, Benny, Tamary, Hannah

“…Congenital dyserythropoietic anemia type I (CDA I) is an autosomal recessive disease characterized by moderate to severe macrocytic anemia and pathognomonic…”
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Is less more? Intravenous immunoglobulin for pediatric immune thrombocytopenia by Elron, Eyal, Yacobovich, Joanne, Efros, Orly, Tanous, Osama, Levy-Mendelovich, Sarina, Shamba, Esti, Steinberg-Shemer, Orna, Goldberg, Tracie, Izraeli, Shai, Gilad, Oded

“…Treatment of pediatric immune thrombocytopenia (ITP) is guided by the risk of bleeding. Intravenous immunoglobulin (IVIg) is one of the first-line therapy…”
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