Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell · 1993 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +7

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations

Medicine, Genetics, Molecular Genetics +16

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jóźwiak, David Neal Franz et al. · The American Journal of Human Genetics · 2001 · 1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Őzgür Sancak, Mark Nellist, Miriam Goedbloed et al. · European Journal of Human Genetics · 2005 · 488 citations

Medicine, Genetics, Molecular Genetics +17

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

Adriane C. Jones, C. Daniells, Russell G. Snell et al. · Human Molecular Genetics · 1997 · 257 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16