Goedbloed MA - Search Results

1

Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins.

Nellist M, Goedbloed MA, Halley DJ. Nellist M, et al. Among authors: goedbloed ma. Biochem Soc Trans. 2003 Jun;31(Pt 3):587-91. doi: 10.1042/bst0310587. Biochem Soc Trans. 2003. PMID: 12773161 Review.

2

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A. Sancak O, et al. Eur J Hum Genet. 2005 Jun;13(6):731-41. doi: 10.1038/sj.ejhg.5201402. Eur J Hum Genet. 2005. PMID: 15798777

3

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed M, Adriaans A, Wessels M, Maat-Kievit A, Baars M, Dommering C, van den Ouweland A, Halley D. Nellist M, et al. BMC Med Genet. 2008 Feb 26;9:10. doi: 10.1186/1471-2350-9-10. BMC Med Genet. 2008. PMID: 18302728 Free PMC article.

4

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.

5

Identification and characterization of the interaction between tuberin and 14-3-3zeta.

Nellist M, Goedbloed MA, de Winter C, Verhaaf B, Jankie A, Reuser AJ, van den Ouweland AM, van der Sluijs P, Halley DJ. Nellist M, et al. Among authors: goedbloed ma. J Biol Chem. 2002 Oct 18;277(42):39417-24. doi: 10.1074/jbc.M204802200. Epub 2002 Aug 9. J Biol Chem. 2002. PMID: 12176984 Free article.

6

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

Nellist M, Sancak O, Goedbloed MA, Rohe C, van Netten D, Mayer K, Tucker-Williams A, van den Ouweland AM, Halley DJ. Nellist M, et al. Among authors: goedbloed ma. Eur J Hum Genet. 2005 Jan;13(1):59-68. doi: 10.1038/sj.ejhg.5201276. Eur J Hum Genet. 2005. PMID: 15483652

7

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.

Nellist M, van Slegtenhorst MA, Goedbloed M, van den Ouweland AM, Halley DJ, van der Sluijs P. Nellist M, et al. Among authors: goedbloed m. J Biol Chem. 1999 Dec 10;274(50):35647-52. doi: 10.1074/jbc.274.50.35647. J Biol Chem. 1999. PMID: 10585443 Free article.

8

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

Nellist M, Verhaaf B, Goedbloed MA, Reuser AJ, van den Ouweland AM, Halley DJ. Nellist M, et al. Among authors: goedbloed ma. Hum Mol Genet. 2001 Dec 1;10(25):2889-98. doi: 10.1093/hmg/10.25.2889. Hum Mol Genet. 2001. PMID: 11741832

9

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.

Goedbloed MA, Nellist M, Verhaaf B, Reuser AJ, Lindhout D, Sunde L, Verhoef S, Halley DJ, van den Ouweland AM. Goedbloed MA, et al. Eur J Hum Genet. 2001 Nov;9(11):823-8. doi: 10.1038/sj.ejhg.5200728. Eur J Hum Genet. 2001. PMID: 11781698

10

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM. Nellist M, et al. Among authors: goedbloed ma. Genet Test. 2005 Fall;9(3):226-30. doi: 10.1089/gte.2005.9.226. Genet Test. 2005. PMID: 16225402

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