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Mary Pat Reeve's TSC2 references

  1. Au KS, Rodriguez JA, Rodriguez E Jr, Dobyns WB, Delgado MR, Northrup H; "Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16" Hum Mutat 1997;9(1):23-9

  2. Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR; "Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome" Nat Genet. 1994 Dec;8(4):328-32

  3. Jobert S, Bragado-Nilsson E, Samolyk D, Pedespan JM, Marchal C, Reichert S, Mallet J, Pitiot G; "Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein" Eur J Hum Genet 1997 Sep-Oct;5(5):280-7

  4. Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP; "Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis" Hum Mol Genet 1997 Nov;6(12):2155-61

  5. Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR; "Mutation analysis of the TSC2 gene in an African-American family" Hum Mol Genet 1995 Dec;4(12):2295-8

  6. Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR; "A novel splice site mutation (156 +1G-->A) in the TSC2 gene" Hum Mutat 1997;9(1):64-5

  7. Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak-Vance MA, Gilbert JR; "A de novo frame-shift mutation in the tuberin gene" Hum Mol Genet 1995 Aug;4(8):1471-2

  8. Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR; "The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis" Hum Mol Genet 1997 Oct;6(11):1991-6

  9. Platten M, Meyer-Puttlitz B, Blumcke I, Waha A, Wolf HK, Nothen MM, Louis DN, Sampson JR, von Deimling A; "A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas" J Neuropathol Exp Neurol 1997 Jul;56(7):806-10

  10. vanBakel I, Sepp T, Ward S, Yates JR, Green AJ; "Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT)" Hum Mol Genet 1997 Sep;6(9):1409-14

  11. vanBakel I, Sepp T, Yates JR, Green AJ; "An EcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene" Mol Cell Probes 1997 Feb;11(1):75-6

  12. Verhoef S, Vrtel R, van Essen T, Bakker L, Sikkens E, Halley D, Lindhout D, van den Ouweland A; "Somatic mosaicism and clinical variation in tuberous sclerosis complex" Lancet 1995 Jan 21;345(8943):202

  13. 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; "Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex" J Med Genet 1996 Jan;33(1):47-51

  14. Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL; "Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients" Hum Mol Genet 1996 Feb;5(2):249-56

  15. Yates JR, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ; "Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis" Hum Mol Genet 1997 Dec;6(13):2265-9

  16. Nellist M, Janssen B, Brook-Carter P, Hesselling-Janssen A, Maheshwar M, Verhoef S, Van den Ouweland A, Lindhout D, Eussen B, Cordeiro I, Santos H, Halley D, Sampson J; "Identification and characterization of the tuberous sclerosis gene on chromosome 16" Cell 75: 1305-1315

  17. 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; "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. Hum Mutat 1998;11(4):331-2

  18. 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; "Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene" Hum Mutat 1998;Suppl 1:S85-7

  19. Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H; "Germ-Line Mosaicism in Tuberous Sclerosis: How Common?" Am J Hum Genet 1999 Apr;64(4):986-992

  20. Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP; "Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis" Am J Hum Genet 1999 May;64(5):1305-15

  21. Gilbert JR, Guy V, Kumar A, Wolpert C, Kandt R, Aylesworth A, Roses AD, Pericak-Vance MA; "Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene" Neurogenetics (1998) 1:267-272

  22. Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H; "Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients" Am J Hum Genet 1998 Feb;62(2):286-94

  23. Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V; "Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis" Hum Mutat 1998;12(6):408-16

  24. Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM; "High rate of mosaicism in tuberous sclerosis complex" Am J Hum Genet. 1999 Jun;64(6):1632-7

  25. Cheadle, J, et al. Wales UK; Unpublished table of mutations Feb 1999