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Page 1
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: van der burg m. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc, van veelen lr. J Clin Invest. 2006 Jan;116(1):137-45. doi: 10.1172/JCI26121. Epub 2005 Dec 15. J Clin Invest. 2006. PMID: 16357942 Free PMC article.
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: van dongen jj, van der burg m. 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.
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M. Turul T, et al. Among authors: van dongen jj, van der burg m. Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29. Eur J Pediatr. 2009. PMID: 18509675
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: van dongen j, van der burg m. 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: van dongen jj, van gent dc, van der burg m. 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
443 results