Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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. 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.
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF. Nellist M, et al. Among authors: maat kievit aj. BMC Med Genet. 2015 Feb 25;16:10. doi: 10.1186/s12881-015-0155-4. BMC Med Genet. 2015. PMID: 25927202 Free PMC article.
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D. Nellist M, et al. Eur J Hum Genet. 2009 Mar;17(3):319-28. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830229 Free PMC article.
Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.
Santiago Lima AJ, Hoogeveen-Westerveld M, Nakashima A, Maat-Kievit A, van den Ouweland A, Halley D, Kikkawa U, Nellist M. Santiago Lima AJ, et al. Among authors: maat kievit a. PLoS One. 2014 Apr 8;9(4):e93940. doi: 10.1371/journal.pone.0093940. eCollection 2014. PLoS One. 2014. PMID: 24714658 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
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. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
45 results