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Page 1
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EA, Litzman J, Kondratenko I, van Dongen JJ, van der Burg M. van Zelm MC, et al. Among authors: bernatowska e. Am J Hum Genet. 2008 Feb;82(2):320-32. doi: 10.1016/j.ajhg.2007.10.011. Am J Hum Genet. 2008. PMID: 18252213 Free PMC article.
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.
Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L. Tóth B, et al. Among authors: bernatowska e. Mol Immunol. 2009 Jun;46(10):2140-6. doi: 10.1016/j.molimm.2009.03.012. Epub 2009 May 5. Mol Immunol. 2009. PMID: 19419768
A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity.
Wiegant WW, Meyers M, Verkaik NS, van der Burg M, Darroudi F, Romeijn R, Bernatowska E, Wolska-Kusnierz B, Mikoluc B, Jaspers NG, Vreeken C, Ijspeert H, Esveldt-van Lange RE, Friedl AA, de Villartay JP, Mullenders LH, van Dongen JJ, van Gent DC, Pastink A, Zdzienicka MZ. Wiegant WW, et al. Among authors: bernatowska e. DNA Repair (Amst). 2010 Apr 4;9(4):365-73. doi: 10.1016/j.dnarep.2009.12.004. Epub 2010 Jan 15. DNA Repair (Amst). 2010. PMID: 20079696
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW. van der Burg M, et al. Among authors: bernatowska e. Blood. 2010 Jun 10;115(23):4770-7. doi: 10.1182/blood-2009-10-250514. Epub 2010 Apr 8. Blood. 2010. PMID: 20378756 Free article.
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L; J Project Study Group. Gulácsy V, et al. Among authors: bernatowska e. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24. Mol Immunol. 2011. PMID: 21185603
Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans.
Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Aiuti A, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M. Castiello MC, et al. Among authors: bernatowska e. J Autoimmun. 2014 May;50(100):42-50. doi: 10.1016/j.jaut.2013.10.006. Epub 2013 Dec 25. J Autoimmun. 2014. PMID: 24369837 Free PMC article.
Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Wentink M, Dalm V, Lankester AC, van Schouwenburg PA, Schölvinck L, Kalina T, Zachova R, Sediva A, Lambeck A, Pico-Knijnenburg I, van Dongen JJ, Pac M, Bernatowska E, van Hagen M, Driessen G, van der Burg M. Wentink M, et al. Among authors: bernatowska e. Clin Immunol. 2017 Mar;176:77-86. doi: 10.1016/j.clim.2017.01.004. Epub 2017 Jan 17. Clin Immunol. 2017. PMID: 28104464
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV. Sharapova SO, et al. Among authors: bernatowska e. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
114 results