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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2001 1
2002 2
2003 1
2004 3
2005 3
2006 3
2007 4
2008 2
2009 2
2010 4
2011 4
2012 3
2013 4
2014 5
2015 7
2016 5
2017 2
2018 5
2019 1
2020 2
2021 2
2022 1
2023 0
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61 results
Results by year
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Page 1
Cancer Risks for PMS2-Associated Lynch Syndrome.
Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK. Ten Broeke SW, et al. Among authors: spruijt l. J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. J Clin Oncol. 2018. PMID: 30161022 Free PMC article.
Neurofibromas in LZTR1 schwannomatosis.
Groen JL, Moghadasi S, Spruijt L, Korpershoek E, van Ierland Y, van Wezel JT, van Duinen S, Malessy MJA, Lesnik Oberstein SAJ. Groen JL, et al. Among authors: spruijt l. Clin Genet. 2022 May;101(5-6):571-572. doi: 10.1111/cge.14121. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35178712 No abstract available.
Founder mutations among the Dutch.
Zeegers MP, van Poppel F, Vlietinck R, Spruijt L, Ostrer H. Zeegers MP, et al. Among authors: spruijt l. Eur J Hum Genet. 2004 Jul;12(7):591-600. doi: 10.1038/sj.ejhg.5201151. Eur J Hum Genet. 2004. PMID: 15010701 Review.
SNP association study in PMS2-associated Lynch syndrome.
Ten Broeke SW, Elsayed FA, Pagan L, Olderode-Berends MJW, Garcia EG, Gille HJP, van Hest LP, Letteboer TGW, van der Kolk LE, Mensenkamp AR, van Os TA, Spruijt L, Redeker BJW, Suerink M, Vos YJ, Wagner A, Wijnen JT, Steyerberg EW, Tops CMJ, van Wezel T, Nielsen M. Ten Broeke SW, et al. Among authors: spruijt l. Fam Cancer. 2018 Oct;17(4):507-515. doi: 10.1007/s10689-017-0061-3. Fam Cancer. 2018. PMID: 29147930 Free PMC article.
TINF2 is a haploinsufficient tumor suppressor that limits telomere length.
Schmutz I, Mensenkamp AR, Takai KK, Haadsma M, Spruijt L, de Voer RM, Choo SS, Lorbeer FK, van Grinsven EJ, Hockemeyer D, Jongmans MC, de Lange T. Schmutz I, et al. Among authors: spruijt l. Elife. 2020 Dec 1;9:e61235. doi: 10.7554/eLife.61235. Elife. 2020. PMID: 33258446 Free PMC article.
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R, Brandão RD, Tserpelis D, van Roozendaal CEP, van Oosterhoud CN, Claes KBM, Paulussen ADC, Sinnema M, Vreeburg M, van der Schoot V, Stumpel CTRM, Broen MPG, Spruijt L, Jongmans MCJ, Lesnik Oberstein SAJ, Plomp AS, Misra-Isrie M, Duijkers FA, Louwers MJ, Szklarczyk R, Derks KWJ, Brunner HG, van den Wijngaard A, van Geel M, Blok MJ. Koster R, et al. Among authors: spruijt l. NPJ Genom Med. 2021 Nov 15;6(1):95. doi: 10.1038/s41525-021-00258-w. NPJ Genom Med. 2021. PMID: 34782607 Free PMC article.
NR2F1 mutations cause optic atrophy with intellectual disability.
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics; Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. Bosch DG, et al. Among authors: spruijt l. Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462372 Free PMC article.
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.
van der Tuin K, Mensenkamp AR, Tops CMJ, Corssmit EPM, Dinjens WN, van de Horst-Schrivers ANA, Jansen JC, de Jong MM, Kunst HPM, Kusters B, Leter EM, Morreau H, van Nesselrooij BMP, Oldenburg RA, Spruijt L, Hes FJ, Timmers HJLM. van der Tuin K, et al. Among authors: spruijt l. J Clin Endocrinol Metab. 2018 Feb 1;103(2):438-445. doi: 10.1210/jc.2017-01762. J Clin Endocrinol Metab. 2018. PMID: 29177515
Clinical phenotype of 5 females with a CDKL5 mutation.
Stalpers XL, Spruijt L, Yntema HG, Verrips A. Stalpers XL, et al. Among authors: spruijt l. J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832. Epub 2011 Jul 15. J Child Neurol. 2012. PMID: 21765152
61 results