Associated Papers
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.
Bolshakova AS et al.
Journal of Clinical Pathology, 2024
Parathyroid carcinoma: molecular therapeutic targets.
Marini F et al.
Endocrine, 2023
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z 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
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
Yang XY et al.
Molecular Genetics & Genomic Medicine, 2022
Autoimmune hepatitis in genetic syndromes: A literature review.
Capra AP et al.
World Journal of Hepatology, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Genetic profiling as a clinical tool in advanced parathyroid carcinoma.
Kutahyalioglu M et al.
Journal of Cancer Research and Clinical Oncology, 2019
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.
Clarke CN et al.
Journal of the Endocrine Society, 2019
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C et al.
Plos One, 2017
[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
Huang C
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2016
Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.
Curatolo P et al.
Seminars in Pediatric Neurology, 2015
High-resolution melting analysis is a more effective approach for screening TSC genes mutations.
Tsai TS et al.
Genetic Testing and Molecular Biomarkers, 2011
Recent advances in neurobiology of Tuberous Sclerosis Complex.
Napolioni V et al.
Brain & Development, 2009
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Rendtorff ND et al.
Human Mutation, 2005
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
Sancak O et al.
European Journal of Human Genetics : Ejhg, 2005
Germ-line mosaicism in tuberous sclerosis: how common?
Rose VM 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
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
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM et al.
Annals of Human Genetics, 1998