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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Jansen AC, et al. Among authors: nellist m. Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
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
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.
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
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.
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM. Wang Q, et al. Among authors: nellist m. Hum Mutat. 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215407
100 results