Associated Papers
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
Jiang Y et al.
Prenatal Diagnosis, 2026
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.
Schwarz JM et al.
International Journal of Molecular Sciences, 2025
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
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells.
Li C et al.
Molecular Cancer Research : Mcr, 2017
Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
Siroky BJ et al.
The Journal of Pediatrics, 2017
The genomic landscape of tuberous sclerosis complex.
Martin KR et al.
Nature Communications, 2017
28643795 (PubMed )
Supplement: ncomms15816-s3.xlsx › Supp_Data_2
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Roberts PS et al.
Journal of Medical Genetics, 2004
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.
Strizheva GD et al.
American Journal of Respiratory and Critical Care Medicine, 2001
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.
Jones AC et al.
Human Genetics, 2000
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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