Works matching DE "SHWACHMAN-Diamond Syndrome"

Results: 48
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    Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 5, p. 613, doi. 10.1007/s00431-012-1908-0
    By:
    • Schaballie, Heidi;
    • Renard, Marleen;
    • Vermylen, Christiane;
    • Scheers, Isabelle;
    • Revencu, Nicole;
    • Regal, Luc;
    • Cassiman, David;
    • Sevenants, Lieve;
    • Hoffman, Ilse;
    • Corveleyn, Anniek;
    • Bordon, Victoria;
    • Haerynck, Filomeen;
    • Allegaert, Karel;
    • Boeck, Kris;
    • Roskams, Tania;
    • Boeckx, Nancy;
    • Bossuyt, Xavier;
    • Meyts, Isabelle
    Publication type:
    Article
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    mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment.

    Published in:
    Cancers, 2020, v. 12, n. 3, p. 597, doi. 10.3390/cancers12030597
    By:
    • Vella, Antonio;
    • D'Aversa, Elisabetta;
    • Api, Martina;
    • Breveglieri, Giulia;
    • Allegri, Marisole;
    • Giacomazzi, Alice;
    • Marinelli Busilacchi, Elena;
    • Fabrizzi, Benedetta;
    • Cestari, Tiziana;
    • Sorio, Claudio;
    • Bedini, Gloria;
    • D'Amico, Giovanna;
    • Bronte, Vincenzo;
    • Poloni, Antonella;
    • Benedetti, Antonio;
    • Bovo, Chiara;
    • Corey, Seth J.;
    • Borgatti, Monica;
    • Cipolli, Marco;
    • Bezzerri, Valentino
    Publication type:
    Article
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    Author Correction: Pluripotent stem cell model of Shwachman–Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.

    Published in:
    2021
    By:
    • Hamabata, Takayuki;
    • Umeda, Katsutsugu;
    • Kouzuki, Kagehiro;
    • Tanaka, Takayuki;
    • Daifu, Tomoo;
    • Nodomi, Seishiro;
    • Saida, Satoshi;
    • Kato, Itaru;
    • Baba, Shiro;
    • Hiramatsu, Hidefumi;
    • Osawa, Mitsujiro;
    • Niwa, Akira;
    • Saito, Megumu K.;
    • Kamikubo, Yasuhiko;
    • Adachi, Souichi;
    • Hashii, Yoshiko;
    • Shimada, Akira;
    • Watanabe, Hiroyoshi;
    • Osafune, Kenji;
    • Okita, Keisuke
    Publication type:
    Correction Notice
    9

    Pluripotent stem cell model of Shwachman–Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71844-8
    By:
    • Hamabata, Takayuki;
    • Umeda, Katsutsugu;
    • Kouzuki, Kagehiro;
    • Tanaka, Takayuki;
    • Daifu, Tomoo;
    • Nodomi, Seishiro;
    • Saida, Satoshi;
    • Kato, Itaru;
    • Baba, Shiro;
    • Hiramatsu, Hidefumi;
    • Osawa, Mitsujiro;
    • Niwa, Akira;
    • Saito, Megumu K.;
    • Kamikubo, Yasuhiko;
    • Adachi, Souichi;
    • Hashii, Yoshiko;
    • Shimada, Akira;
    • Watanabe, Hiroyoshi;
    • Osafune, Kenji;
    • Okita, Keisuke
    Publication type:
    Article
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    Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan.

    Published in:
    Pediatrics International, 2018, v. 60, n. 8, p. 719, doi. 10.1111/ped.13601
    By:
    • Ikuse, Tamaki;
    • Kudo, Takahiro;
    • Arai, Katsuhiro;
    • Fujii, Yoshimitsu;
    • Ida, Shinobu;
    • Ishii, Tomohiro;
    • Mushiake, Sotaro;
    • Nagata, Kouji;
    • Tamai, Hiroshi;
    • Toki, Akira;
    • Tomomasa, Takeshi;
    • Ushijima, Kosuke;
    • Yanagi, Tadahiro;
    • Yonekura, Takeo;
    • Taguchi, Tomoaki;
    • Shimizu, Toshiaki
    Publication type:
    Article
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    SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006552
    By:
    • Calamita, Piera;
    • Miluzio, Annarita;
    • Russo, Arianna;
    • Pesce, Elisa;
    • Ricciardi, Sara;
    • Khanim, Farhat;
    • Cheroni, Cristina;
    • Alfieri, Roberta;
    • Mancino, Marilena;
    • Gorrini, Chiara;
    • Rossetti, Grazisa;
    • Peluso, Ivana;
    • Pagani, Massimiliano;
    • Medina, Diego L.;
    • Rommens, Johanna;
    • Biffo, Stefano
    Publication type:
    Article
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    Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.

    Published in:
    British Journal of Haematology, 2013, v. 160, n. 4, p. 559, doi. 10.1111/bjh.12134
    By:
    • Aalbers, Anna M.;
    • Calado, Rodrigo T.;
    • Young, Neal S.;
    • Zwaan, C. Michel;
    • Kajigaya, Sachiko;
    • Baruchel, Andre;
    • Geleijns, Karin;
    • Haas, Valerie;
    • Kaspers, Gertjan J. L.;
    • Reinhardt, Dirk;
    • Trka, Jan;
    • Kuijpers, Taco W.;
    • Pieters, Rob;
    • Velden, Vincent H. J.;
    • den Heuvel‐Eibrink, Marry M.
    Publication type:
    Article
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    Shwachman-Diamond syndrome.

    Published in:
    Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S001
    Publication type:
    Article
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    Somatic development in children with Shwachman-Diamond syndrome.

    Published in:
    Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00919-z
    By:
    • Bogusz-Wójcik, Agnieszka;
    • Kołodziejczyk, Honorata;
    • Klaudel-Dreszler, Maja;
    • Oracz, Grzegorz;
    • Pawłowska, Joanna;
    • Szalecki, Mieczysław
    Publication type:
    Article
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