Ijspeert H - Search Results

1

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.

Horos R, Ijspeert H, Pospisilova D, Sendtner R, Andrieu-Soler C, Taskesen E, Nieradka A, Cmejla R, Sendtner M, Touw IP, von Lindern M. Horos R, et al. Among authors: ijspeert h. Blood. 2012 Jan 5;119(1):262-72. doi: 10.1182/blood-2011-06-358200. Epub 2011 Nov 4. Blood. 2012. PMID: 22058113 Free article.

2

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.

Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M. Janda A, et al. Among authors: ijspeert h. Blood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23. Blood. 2016. PMID: 26907631 Free article.

3

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

IJspeert H, Rozmus J, Schwarz K, Warren RL, van Zessen D, Holt RA, Pico-Knijnenburg I, Simons E, Jerchel I, Wawer A, Lorenz M, Patıroğlu T, Akar HH, Leite R, Verkaik NS, Stubbs AP, van Gent DC, van Dongen JJ, van der Burg M. IJspeert H, et al. Blood. 2016 Aug 4;128(5):650-9. doi: 10.1182/blood-2016-02-701029. Epub 2016 Jun 8. Blood. 2016. PMID: 27281794 Free PMC article.

4

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.

Kuijpers TW, Ijspeert H, van Leeuwen EM, Jansen MH, Hazenberg MD, Weijer KC, van Lier RA, van der Burg M. Kuijpers TW, et al. Among authors: ijspeert h. Blood. 2011 Jun 2;117(22):5892-6. doi: 10.1182/blood-2011-01-329052. Epub 2011 Apr 18. Blood. 2011. PMID: 21502542 Free article.

5

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.

Ijspeert H, Lankester AC, van den Berg JM, Wiegant W, van Zelm MC, Weemaes CM, Warris A, Pan-Hammarström Q, Pastink A, van Tol MJ, van Dongen JJ, van Gent DC, van der Burg M. Ijspeert H, et al. Genes Immun. 2011 Sep;12(6):434-44. doi: 10.1038/gene.2011.16. Epub 2011 Mar 10. Genes Immun. 2011. PMID: 21390052

6

Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.

IJspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M. IJspeert H, et al. Hum Mutat. 2013 Dec;34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 24027040 Free PMC article.

7

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: ijspeert h. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.

8

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: ijspeert h. 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.

9

Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.

Wiekmeijer AS, Pike-Overzet K, IJspeert H, Brugman MH, Wolvers-Tettero IL, Lankester AC, Bredius RG, van Dongen JJ, Fibbe WE, Langerak AW, van der Burg M, Staal FJ. Wiekmeijer AS, et al. Among authors: ijspeert h. J Allergy Clin Immunol. 2016 Feb;137(2):517-526.e3. doi: 10.1016/j.jaci.2015.08.022. Epub 2015 Oct 4. J Allergy Clin Immunol. 2016. PMID: 26441229

10

Delineating Human B Cell Precursor Development With Genetically Identified PID Cases as a Model.

Wentink MWJ, Kalina T, Perez-Andres M, Del Pino Molina L, IJspeert H, Kavelaars FG, Lankester AC, Lecrevisse Q, van Dongen JJM, Orfao A, van der Burg M. Wentink MWJ, et al. Among authors: ijspeert h. Front Immunol. 2019 Nov 26;10:2680. doi: 10.3389/fimmu.2019.02680. eCollection 2019. Front Immunol. 2019. PMID: 31849931 Free PMC article.

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