Associated Papers
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S et al.
European Journal of Human Genetics : Ejhg, 2024
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
36232477 (PubMed )
Supplement: ijms-23-11175-s001.zip › Table_S1_TSC_Japan_dataset_2022_v3.xlsx › TSC_Japan_dataset
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
[Genetic analysis of a mosaic case with low proportion mutation of TSC2 gene].
Jin X et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2020
Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis.
Yu J et al.
American Journal of Respiratory and Critical Care Medicine, 2001
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL et al.
American Journal of Human Genetics, 2001
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