Nellist M - Search Results

1

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.

2

Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.

van Slegtenhorst M, Janssen B, Nellist M, Ramlakhan S, Hermans C, Hesseling A, van den Ouweland A, Kwiatkowski D, Eussen B, Sampson J, et al. van Slegtenhorst M, et al. Among authors: nellist m. Eur J Hum Genet. 1995;3(2):78-86. doi: 10.1159/000472280. Eur J Hum Genet. 1995. PMID: 7552145

3

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR. Brook-Carter PT, et al. Among authors: nellist m. Nat Genet. 1994 Dec;8(4):328-32. doi: 10.1038/ng1294-328. Nat Genet. 1994. PMID: 7894481

4

Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.

Janssen B, Sampson J, van der Est M, Deelen W, Verhoef S, Daniels I, Hesseling A, Brook-Carter P, Nellist M, Lindhout D, et al. Janssen B, et al. Among authors: nellist m. Hum Genet. 1994 Oct;94(4):437-40. doi: 10.1007/BF00201608. Hum Genet. 1994. PMID: 7927344

5

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Nellist M, Brook-Carter PT, Connor JM, Kwiatkowski DJ, Johnson P, Sampson JR. Nellist M, et al. J Med Genet. 1993 Mar;30(3):224-7. doi: 10.1136/jmg.30.3.224. J Med Genet. 1993. PMID: 8386250 Free PMC article.

6

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.

Maheshwar MM, Sandford R, Nellist M, Cheadle JP, Sgotto B, Vaudin M, Sampson JR. Maheshwar MM, et al. Among authors: nellist m. Hum Mol Genet. 1996 Jan;5(1):131-7. doi: 10.1093/hmg/5.1.131. Hum Mol Genet. 1996. PMID: 8789450

7

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PL, Hermans CJ, Bink-Boelkens MT, van Elburg RM, Hoff M, Lindhout D, Sampson J, Halley DJ, van den Ouweland AM. Vrtel R, et al. Among authors: nellist m. J Med Genet. 1996 Jan;33(1):47-51. doi: 10.1136/jmg.33.1.47. J Med Genet. 1996. PMID: 8825048 Free PMC article.

8

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: nellist m. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

9

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.

Verhoef S, Vrtel R, Bakker L, Stolte-Dijkstra I, Nellist M, Begeer JH, Zaremba J, Jozwiak S, Tempelaars AM, Lindhout D, Halley DJ, van den Ouweland AM. Verhoef S, et al. Among authors: nellist m. Hum Mutat. 1998;Suppl 1:S85-7. doi: 10.1002/humu.1380110129. Hum Mutat. 1998. PMID: 9452050 No abstract available.

10

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R, van den Ouweland A, Reuser A, Sampson J, Halley D, van der Sluijs P. van Slegtenhorst M, et al. Among authors: nellist m. Hum Mol Genet. 1998 Jun;7(6):1053-7. doi: 10.1093/hmg/7.6.1053. Hum Mol Genet. 1998. PMID: 9580671 Free article.

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