Kuijpers TW - Search Results

1

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

2

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

3

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.

Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Kuijpers TW, et al. Blood. 2005 Jul 1;106(1):356-61. doi: 10.1182/blood-2004-11-4371. Epub 2005 Mar 15. Blood. 2005. PMID: 15769891 Free article.

4

Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

Orelio C, van der Sluis RM, Verkuijlen P, Nethe M, Hordijk PL, van den Berg TK, Kuijpers TW. Orelio C, et al. Among authors: kuijpers tw. PLoS One. 2011;6(6):e20727. doi: 10.1371/journal.pone.0020727. Epub 2011 Jun 13. PLoS One. 2011. PMID: 21695142 Free PMC article.

5

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

6

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

7

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.

8

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.

Tuijnenburg P, Cuadrado E, Bosch AM, Kindermann A, Jansen MH, Alders M, van Leeuwen EM, Kuijpers TW. Tuijnenburg P, et al. Among authors: kuijpers tw. Front Pediatr. 2017 Feb 27;5:37. doi: 10.3389/fped.2017.00037. eCollection 2017. Front Pediatr. 2017. PMID: 28289675 Free PMC article.

9

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.

10

Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics.

Orelio C, Kuijpers TW. Orelio C, et al. Among authors: kuijpers tw. Haematologica. 2009 Mar;94(3):409-13. doi: 10.3324/haematol.13733. Epub 2009 Feb 11. Haematologica. 2009. PMID: 19211642 Free PMC article.

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