Associated Papers
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.
Bolshakova AS et al.
Journal of Clinical Pathology, 2024
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C et al.
Orphanet Journal of Rare Diseases, 2022
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
Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China.
Wang X et al.
Frontiers in Medicine, 2022
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 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
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
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.
Li S et al.
Human Pathology, 2018
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.
Mills JD et al.
Scientific Reports, 2017
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
Cai Y et al.
Urology, 2017
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Bénit P et al.
Prenatal Diagnosis, 2001
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
Bénit P et al.
Human Mutation, 2000
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Bénit P et al.
Human Mutation, 1999
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Dabora SL et al.
Annals of Human Genetics, 1998
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J et al.
Annals of Human Genetics, 1998
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
van Slegtenhorst M et al.
Science (new York, N.y.), 1997