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Page 1
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
van den Ouweland AM, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJ, Halley DJ. van den Ouweland AM, et al. Among authors: zonnenberg ba. Eur J Hum Genet. 2011 Feb;19(2):157-63. doi: 10.1038/ejhg.2010.156. Epub 2010 Sep 29. Eur J Hum Genet. 2011. PMID: 20877415 Free PMC article.
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
High rate of mosaicism in tuberous sclerosis complex.
Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM. Verhoef S, et al. Among authors: zonnenberg ba. Am J Hum Genet. 1999 Jun;64(6):1632-7. doi: 10.1086/302412. Am J Hum Genet. 1999. PMID: 10330349 Free PMC article.
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg BA, van den Ouweland A, van Huffelen AC, van Nieuwenhuizen O, Nellist M. Jansen FE, et al. Among authors: zonnenberg ba. Neurology. 2008 Mar 18;70(12):908-15. doi: 10.1212/01.wnl.0000280578.99900.96. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032745
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition.
Jansen FE, Vincken KL, Algra A, Anbeek P, Braams O, Nellist M, Zonnenberg BA, Jennekens-Schinkel A, van den Ouweland A, Halley D, van Huffelen AC, van Nieuwenhuizen O. Jansen FE, et al. Among authors: zonnenberg ba. Neurology. 2008 Mar 18;70(12):916-23. doi: 10.1212/01.wnl.0000280579.04974.c0. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032744
Compliance with periodic surveillance for Von-Hippel-Lindau disease.
Lammens CR, Aaronson NK, Hes FJ, Links TP, Zonnenberg BA, Lenders JW, Majoor-Krakauer D, Van Os TA, Gomez-Garcia EB, de Herder W, van der Luijt RB, van den Ouweland AM, Van Hest LP, Verhoef S, Bleiker EM. Lammens CR, et al. Among authors: zonnenberg ba. Genet Med. 2011 Jun;13(6):519-27. doi: 10.1097/GIM.0b013e3182091a1d. Genet Med. 2011. PMID: 21415761 Free article.
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA investigators. Sauter M, et al. Orphanet J Rare Dis. 2021 Jul 6;16(1):301. doi: 10.1186/s13023-021-01917-y. Orphanet J Rare Dis. 2021. PMID: 34229737 Free PMC article.
137 results