Associated Papers
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.1.
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.
Nathan N et al.
The Journal of Investigative Dermatology, 2016
26824744 (PubMed )
Supplement: NIHMS738379-supplement-supplement_1.pdf
Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.
Wong HT et al.
Journal of Medical Genetics, 2015
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.
Jones AC et al.
Human Genetics, 2000
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC et al.
American Journal of Human Genetics, 1999
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y et al.
Human Mutation, 1999
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