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[Tuberous sclerosis].
Stroink H, Oranje AP, Hoff M, Lindhout D, Willems MH, Fleury P. Stroink H, et al. Among authors: lindhout d. Ned Tijdschr Geneeskd. 1990 Aug 11;134(32):1535-40. Ned Tijdschr Geneeskd. 1990. PMID: 2202910 Review. Dutch. No abstract available.
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: lindhout d. 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 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: lindhout d. 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
Genetic heterogeneity in tuberous sclerosis.
Janssen LA, Sandkuyl LA, Merkens EC, Maat-Kievit JA, Sampson JR, Fleury P, Hennekam RC, Grosveld GC, Lindhout D, Halley DJ. Janssen LA, et al. Among authors: lindhout d. Genomics. 1990 Oct;8(2):237-42. doi: 10.1016/0888-7543(90)90277-2. Genomics. 1990. PMID: 1979047
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. Among authors: lindhout d. Eur J Hum Genet. 2001 Nov;9(11):823-8. doi: 10.1038/sj.ejhg.5200728. Eur J Hum Genet. 2001. PMID: 11781698
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: lindhout d. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607
243 results