Works matching Nijmegen breakage syndrome


Results: 249
    1
    2

    Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

    Published in:
    Journal of Clinical Immunology, 2015, v. 35, n. 6, p. 538, doi. 10.1007/s10875-015-0186-9
    By:
    • Wolska-Kuśnierz, Beata;
    • Gregorek, Hanna;
    • Chrzanowska, Krystyna;
    • Piątosa, Barbara;
    • Pietrucha, Barbara;
    • Heropolitańska-Pliszka, Edyta;
    • Pac, Małgorzata;
    • Klaudel-Dreszler, Maja;
    • Kostyuchenko, Larysa;
    • Pasic, Srdjan;
    • Marodi, Laszlo;
    • Belohradsky, Bernd;
    • Čižnár, Peter;
    • Shcherbina, Anna;
    • Kilic, Sara;
    • Baumann, Ulrich;
    • Seidel, Markus;
    • Gennery, Andrew;
    • Syczewska, Małgorzata;
    • Mikołuć, Bożena
    Publication type:
    Article
    3
    4
    5

    Prospective study of a cohort of russian nijmegen Breakage syndrome Patients Demonstrating Predictive Value of low Kappa-Deleting recombination excision circle (Krec) numbers and Beneficial effect of hematopoietic stem cell Transplantation (hscT).

    Published in:
    Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00807
    By:
    • Deripapa, Elena;
    • Balashov, Dmitry;
    • Rodina, Yulia;
    • Laberko, Alexandra;
    • Myakova, Natalya;
    • Davydova, Nataliia V.;
    • Gordukova, Maria A.;
    • Abramov, Dmitrii S.;
    • Pay, Galina V.;
    • Shelikhova, Larisa;
    • Prodeus, Andrey P.;
    • Maschan, Mikhail A.;
    • Maschan, Alexey A.;
    • Shcherbina, Anna
    Publication type:
    Article
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21

    Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1428724
    By:
    • Boyarchuk, Oksana;
    • Kostyuchenko, Larysa;
    • Akopyan, Hayane;
    • Bondarenko, Anastasiia;
    • Volokha, Alla;
    • Hilfanova, Anna;
    • Savchak, Ihor;
    • Nazarenko, Liliia;
    • Yarema, Nataliia;
    • Urbas, Olha;
    • Hrabovska, Iryna;
    • Lysytsia, Oleksandr;
    • Budzyn, Andrii;
    • Tykholaz, Oksana;
    • Ivanchuk, Mariana;
    • Bastanohova, Olha;
    • Patskun, Erika;
    • Vasylenko, Nataliia;
    • Stepanovskyy, Yuriy;
    • Chernyshova, Liudmyla
    Publication type:
    Article
    22
    23
    24
    25
    26

    Nijmegen breakage syndrome and chronic polyarthritis.

    Published in:
    Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 59, doi. 10.1186/1824-7288-39-59
    By:
    • Pasic, Srdjan;
    • Cupic, Maja;
    • Jovanovic, Tanja;
    • Djukic, Slobodanka;
    • Kavaric, Maja;
    • Lazarevic, Ivana
    Publication type:
    Article
    27
    28

    Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 861, doi. 10.1007/s10875-020-00811-9
    By:
    • Laberko, Alexandra;
    • Sultanova, Elvira;
    • Gutovskaya, Elena;
    • Radygina, Svetlana;
    • Deripapa, Elena;
    • Kantulaeva, Aishat;
    • Trakhtman, Pavel;
    • Brilliantova, Varvara;
    • Starichkova, Julia;
    • Shcherbina, Anna;
    • Maschan, Michael;
    • Maschan, Alexei;
    • Balashov, Dmitry
    Publication type:
    Article
    29
    30

    Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.

    Published in:
    Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.602482
    By:
    • Sharapova, Svetlana O.;
    • Pashchenko, Olga E.;
    • Bondarenko, Anastasiia V.;
    • Vakhlyarskaya, Svetlana S.;
    • Prokofjeva, Tatjana;
    • Fedorova, Alina S.;
    • Savchak, Ihor;
    • Mareika, Yuliya;
    • Valiev, Timur T.;
    • Popa, Alexander;
    • Tuzankina, Irina A.;
    • Vlasova, Elena V.;
    • Sakovich, Inga S.;
    • Polyakova, Ekaterina A.;
    • Rumiantseva, Natalia V.;
    • Naumchik, Irina V.;
    • Kulyova, Svetlana A.;
    • Aleshkevich, Svetlana N.;
    • Golovataya, Elena I.;
    • Minakovskaya, Nina V.
    Publication type:
    Article
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46

    Nijmegen breakage syndrome (NBS).

    Published in:
    2012
    By:
    • Chrzanowska, Krystyna H;
    • Gregorek, Hanna;
    • Dembowska-Baginska, Boenna;
    • Kalina, Maria A;
    • Digweed, Martin;
    • Dembowska-Bagińska, Bożenna
    Publication type:
    journal article
    47
    48
    49

    Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

    Published in:
    Human Molecular Genetics, 2006, v. 15, n. 5, p. 679, doi. 10.1093/hmg/ddi482
    By:
    • Varon, Raymonda;
    • Dutrannoy, Véronique;
    • Weikert, Georg;
    • Tanzarella, Caterina;
    • Antoccia, Antonio;
    • Stöckl, Lars;
    • Spadoni, Emanuela;
    • Krüger, Lars-Arne;
    • Masi, Alessandra di;
    • Sperling, Karl;
    • Digweed, Martin;
    • Maraschio, Paola
    Publication type:
    Article
    50