Associated Papers
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.
Shin HJ et al.
Neurogenetics, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2
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_2.2.
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.
Tessarech M et al.
American Journal of Medical Genetics. Part A, 2020
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME et al.
Scientific Reports, 2020
A Renal Cell Carcinoma with Biallelic Somatic TSC2 Mutation: Clinical Study and Literature Review.
Pang J et al.
Urology, 2019
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
Tyburczy ME et al.
Human Molecular Genetics, 2015
Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
Choi JE et al.
Brain & Development, 2006
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