Kuijpers TW - Search Results

1

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.

Daniels EG, Alders M, Lezzerini M, McDonald A, Peters M, Kuijpers TW, Lakeman P, Houtkooper RH, MacInnes AW. Daniels EG, et al. Among authors: kuijpers tw. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004457. doi: 10.1101/mcs.a004457. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31653659 Free PMC article.

2

A boy with chickenpox whose fingers peeled.

Kuijpers TW, Tjia KL, de Jager F, Peters M, Lam J. Kuijpers TW, et al. Lancet. 1998 Jun 13;351(9118):1782. doi: 10.1016/S0140-6736(98)04021-5. Lancet. 1998. PMID: 9635952 No abstract available.

3

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.

Kuijpers TW, Nannenberg E, Alders M, Bredius R, Hennekam RC. Kuijpers TW, et al. Pediatrics. 2004 Sep;114(3):e387-91. doi: 10.1542/peds.2003-0651-F. Pediatrics. 2004. PMID: 15342903

4

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

Mellink CH, Alders M, van der Lelie H, Hennekam RH, Kuijpers TW. Mellink CH, et al. Among authors: kuijpers tw. Cancer Genet Cytogenet. 2004 Oct 15;154(2):144-9. doi: 10.1016/j.cancergencyto.2004.02.001. Cancer Genet Cytogenet. 2004. PMID: 15474150

5

Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.

Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW. Breunis WB, et al. Among authors: kuijpers tw. Blood. 2008 Feb 1;111(3):1029-38. doi: 10.1182/blood-2007-03-079913. Epub 2007 Sep 7. Blood. 2008. PMID: 17827395 Free article.

6

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.

Booij J, Reneman L, Alders M, Kuijpers TW. Booij J, et al. Among authors: kuijpers tw. Am J Med Genet A. 2013 Jan;161A(1):102-7. doi: 10.1002/ajmg.a.35687. Epub 2012 Dec 14. Am J Med Genet A. 2013. PMID: 23239620

7

Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.

aan de Kerk DJ, van Leeuwen EM, Jansen MH, van den Berg JM, Alders M, Vermont CL, van Lier RA, Pals ST, Kuijpers TW. aan de Kerk DJ, et al. Among authors: kuijpers tw. Clin Immunol. 2013 Oct;149(1):25-31. doi: 10.1016/j.clim.2013.06.002. Epub 2013 Jun 19. Clin Immunol. 2013. PMID: 23891736

8

Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.

Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW. Heijnen HF, et al. Among authors: kuijpers tw. PLoS Genet. 2014 May 29;10(5):e1004371. doi: 10.1371/journal.pgen.1004371. eCollection 2014. PLoS Genet. 2014. PMID: 24875531 Free PMC article.

9

The Fc gamma receptor IIa R131H polymorphism is associated with inhibitor development in severe hemophilia A.

Eckhardt CL, Astermark J, Nagelkerke SQ, Geissler J, Tanck MW, Peters M, Fijnvandraat K, Kuijpers TW. Eckhardt CL, et al. Among authors: kuijpers tw. J Thromb Haemost. 2014 Aug;12(8):1294-301. doi: 10.1111/jth.12631. Epub 2014 Jul 16. J Thromb Haemost. 2014. PMID: 24916518 Free article.

10

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Among authors: kuijpers tw. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

630 results

Search Page

Filters