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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Among authors: wentink m. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: wentink m. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Wentink M, Nellist M, Hoogeveen-Westerveld M, Zonnenberg B, van der Kolk D, van Essen T, Park SM, Woods G, Cohn-Hokke P, Brussel W, Smeets E, Brooks A, Halley D, van den Ouweland A, Maat-Kievit A. Wentink M, et al. Clin Genet. 2012 May;81(5):453-61. doi: 10.1111/j.1399-0004.2011.01648.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332470
Deficiencies in the CD19 complex.
Wentink MWJ, van Zelm MC, van Dongen JJM, Warnatz K, van der Burg M. Wentink MWJ, et al. Clin Immunol. 2018 Oct;195:82-87. doi: 10.1016/j.clim.2018.07.017. Epub 2018 Jul 31. Clin Immunol. 2018. PMID: 30075290 Review.
Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Wentink M, Dalm V, Lankester AC, van Schouwenburg PA, Schölvinck L, Kalina T, Zachova R, Sediva A, Lambeck A, Pico-Knijnenburg I, van Dongen JJ, Pac M, Bernatowska E, van Hagen M, Driessen G, van der Burg M. Wentink M, et al. Clin Immunol. 2017 Mar;176:77-86. doi: 10.1016/j.clim.2017.01.004. Epub 2017 Jan 17. Clin Immunol. 2017. PMID: 28104464
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.
Suratannon N, Yeetong P, Srichomthong C, Amarinthnukrowh P, Chatchatee P, Sosothikul D, van Hagen PM, van der Burg M, Wentink M, Driessen GJ, Suphapeetiporn K, Shotelersuk V. Suratannon N, et al. Among authors: wentink m. Pediatr Allergy Immunol. 2016 Mar;27(2):214-7. doi: 10.1111/pai.12485. Epub 2015 Oct 22. Pediatr Allergy Immunol. 2016. PMID: 26359933 No abstract available.
Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.
Driessen GJ, IJspeert H, Wentink M, Yntema HG, van Hagen PM, van Strien A, Bucciol G, Cogulu O, Trip M, Nillesen W, Peeters EA, Pico-Knijnenburg I, Barendregt BH, Rizzi M, van Dongen JJ, Kutukculer N, van der Burg M. Driessen GJ, et al. Among authors: wentink m. J Allergy Clin Immunol. 2016 Dec;138(6):1744-1747.e5. doi: 10.1016/j.jaci.2016.07.010. Epub 2016 Aug 13. J Allergy Clin Immunol. 2016. PMID: 27531073 No abstract available.
47 results