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Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2.
Published in:
British Journal of Haematology, 2024, v. 204, n. 3, p. 1067, doi. 10.1111/bjh.19215
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
Publication type:
Article
Incorporation of somatic panels for the detection of haematopoietic transformation in children and young adults with leukaemia predisposition syndromes and with acquired cytopenias.
Published in:
British Journal of Haematology, 2021, v. 193, n. 3, p. 570, doi. 10.1111/bjh.17285
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
Publication type:
Article
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Published in:
European Journal of Haematology, 2024, v. 113, n. 2, p. 146, doi. 10.1111/ejh.14197
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
Publication type:
Article
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Published in:
European Journal of Haematology, 2018, v. 101, n. 3, p. 297, doi. 10.1111/ejh.13097
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
Publication type:
Article
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.
Published in:
European Journal of Haematology, 2017, v. 99, n. 4, p. 366, doi. 10.1111/ejh.12931
By:
- Resnitzky, Peretz;
- Shaft, Dina;
- Shalev, Hanna;
- Kapelushnik, Joseph;
- Dgany, Orly;
- Krasnov, Tanya;
- Tamary, Hannah
Publication type:
Article
Molecular diagnosis of α-thalassemia in a multiethnic population.
Published in:
European Journal of Haematology, 2017, v. 98, n. 6, p. 553, doi. 10.1111/ejh.12866
By:
- Gilad, Oded;
- Shemer, Orna Steinberg;
- Dgany, Orly;
- Krasnov, Tanya;
- Nevo, Michal;
- Noy ‐ Lotan, Sharon;
- Rabinowicz, Ron;
- Amitai, Nofar;
- Ben ‐ Dor, Shifra;
- Yaniv, Isaac;
- Yacobovich, Joanne;
- Tamary, Hannah
Publication type:
Article
A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.
Published in:
European Journal of Haematology, 2013, v. 90, n. 2, p. 127, doi. 10.1111/ejh.12047
By:
- Shalev, Hanna;
- Landau, Daniela;
- Pissard, Serge;
- Krasnov, Tanya;
- Kapelushnik, Joseph;
- Gilad, Oded;
- Broides, Arnon;
- Dgany, Orly;
- Tamary, Hannah
Publication type:
Article
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Published in:
Human Molecular Genetics, 2019, v. 28, n. 1, p. 133, doi. 10.1093/hmg/ddy334
By:
- Seo, Aaron;
- Gulsuner, Suleyman;
- Pierce, Sarah;
- Ben-Harosh, Miri;
- Shalev, Hanna;
- Walsh, Tom;
- Krasnov, Tanya;
- Dgany, Orly;
- Doulatov, Sergei;
- Tamary, Hannah;
- Shimamura, Akiko;
- King, Mary-Claire
Publication type:
Article
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Published in:
Pediatric Blood & Cancer, 2015, v. 62, n. 1, p. 103, doi. 10.1002/pbc.25251
By:
- Lebel, Asaf;
- Yacobovich, Joanne;
- Krasnov, Tanya;
- Koren, Ariel;
- Levin, Carina;
- Kaplinsky, Chaim;
- Ravel‐Vilk, Shoshana;
- Laor, Ruth;
- Attias, Dina;
- Barak, Ayelet Ben;
- Shtager, Dalia;
- Stein, Jerry;
- Kuperman, Amir;
- Miskin, Hagit;
- Dgany, Orly;
- Giri, Neelam;
- Alter, Blanche P.;
- Tamary, Hannah
Publication type:
Article
Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern.
Published in:
Pediatric Blood & Cancer, 2013, v. 60, n. 10, p. E128, doi. 10.1002/pbc.24581
By:
- Levin, Carina;
- Zalman, Lucia;
- Tamary, Hannah;
- Krasnov, Tanya;
- Khayat, Morad;
- Shalev, Stavit;
- Salama, Ihsan;
- Koren, Ariel
Publication type:
Article
Alpha-Thalassemia Carrier due to –α<sup>3.7</sup> Deletion: Not So Silent.
Published in:
Acta Haematologica, 2020, v. 143, n. 5, p. 432, doi. 10.1159/000503023
By:
- Gilad, Oded;
- Steinberg-Shemer, Orna;
- Dgany, Orly;
- Krasnov, Tanya;
- Noy-Lotan, Sharon;
- Tamary, Hannah;
- Yacobovich, Joanne
Publication type:
Article
E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II.
Published in:
Acta Haematologica, 2011, v. 125, n. 4, p. 202, doi. 10.1159/000322948
By:
- Amir, Achiya;
- Dgany, Orly;
- Krasnov, Tanya;
- Resnitzky, Peretz;
- Mor-Cohen, Ronit;
- Bennett, Michael;
- Berrebi, Alain;
- Tamary, Hannah
Publication type:
Article
E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II.
Published in:
Acta Haematologica, 2011, v. 125, n. 4, p. 202, doi. 10.1159/000322948
By:
- Amir, Achiya;
- Dgany, Orly;
- Krasnov, Tanya;
- Resnitzky, Peretz;
- Mor-Cohen, Ronit;
- Bennett, Michael;
- Berrebi, Alain;
- Tamary, Hannah
Publication type:
Article

Found: 13