Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

450 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. J Clin Invest. 2009 Jan;119(1):91-8. doi: 10.1172/JCI37141. Epub 2008 Dec 15. J Clin Invest. 2009. PMID: 19075392 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: 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
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. Curr Opin Allergy Clin Immunol. 2009. PMID: 19823081 Review.
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: van der burg m. 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
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: van der maarel sm, van tol mj, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. Among authors: van dongen jj, van der flier m, van der burg m, van zelm mc, van deuren m. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
450 results