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Items: 11

1.

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.

Genet Test. 2005 Fall;9(3):226-30.

PMID:
16225402
2.

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.

Eur J Hum Genet. 2005 Jan;13(1):59-68.

3.

Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.

Jansen FE, Notenboom RG, Nellist M, Goedbloed MA, Halley DJ, de Graan PN, van Nieuwenhuizen O.

Neurology. 2004 Oct 12;63(7):1293-5.

PMID:
15477556
4.

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

Nellist M, Goedbloed MA, Halley DJ.

Biochem Soc Trans. 2003 Jun;31(Pt 3):587-91. Review.

PMID:
12773161
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.

J Biol Chem. 2002 Oct 18;277(42):39417-24. Epub 2002 Aug 9.

6.

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.

Eur J Hum Genet. 2001 Nov;9(11):823-8.

7.

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.

Hum Mol Genet. 2001 Dec 1;10(25):2889-98.

PMID:
11741832
8.

New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.

Nauta J, Goedbloed MA, Herck HV, Hesselink DA, Visser P, Willemsen R, Dokkum RP, Wright CJ, Guay-Woodford LM.

J Am Soc Nephrol. 2000 Dec;11(12):2272-84.

9.

Immunological detection of polycystin-1 in human kidney.

Nauta J, Goedbloed MA, van den Ouweland AM, Nellist M, Hoogeveen AT.

Histochem Cell Biol. 2000 Apr;113(4):303-11.

PMID:
10857482
10.

The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1.

Nauta J, Goedbloed MA, Luider TM, Hoogeveen AT, van den Ouweland AM, Halley DJ.

Lab Anim. 1997 Jul;31(3):241-7.

PMID:
9230505
11.

Angiotensin II induced expression of transcription factors precedes increase in transforming growth factor-beta 1 mRNA in neonatal cardiac fibroblasts.

Sharma HS, van Heugten HA, Goedbloed MA, Verdouw PD, Lamers JM.

Biochem Biophys Res Commun. 1994 Nov 30;205(1):105-12.

PMID:
7999008

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