Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ; "Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE"

Tuberous Sclerosis Project

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Mary Pat Reeve's TSC1 references

#1 Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ; "Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE". Ann Hum Genet 1998 Nov;62 (Pt 6):491-504.

#2 vanSlegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A; "Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation". J Med Genet 1999 Apr;36(4):285-9.

#3 Smith M, Sperling D; "Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas". Am J Med Genet 1999 Jun 4;84(4):346-9.

#4 Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S; "A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients". Ann Hum Genet. 1998 May;62 (Pt 3):203-13.

#5 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.

#6 Ali JB, Sepp T, Ward S, Green AJ, Yates JR; "Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis". J Med Genet. 1998 Dec;35(12):969-72.

#7 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

#8 Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ; "Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance". Ann Hum Genet 1998 Jul;62 ( Pt 4):277-85.

#9 Unpublished table of mutations from Yates JR, et al. Cambridge UK, June 1998.

#10 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.

#11 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