Associated Papers
Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases.
Liu J et al.
Bmc Pregnancy and Childbirth, 2025
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
39669605 (PubMed )
Supplement: mmc1.pdf
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C et al.
Orphanet Journal of Rare Diseases, 2022
35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc2
Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.
Wang W et al.
Genetics and Molecular Biology, 2022
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.
Armstrong LC et al.
Human Molecular Genetics, 2017
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
Cai Y et al.
Urology, 2017
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Roberts PS et al.
Journal of Medical Genetics, 2004
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Langkau N et al.
European Journal of Pediatrics, 2002
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
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