Cite

1. Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9,88-100.Search in Google Scholar

2. Crino Pb, Nathanson Kl, Henske Ep. The Tuberous Sclerosis Complex. N Engl J Med. 2006; 355:1345-1356.10.1056/NEJMra055323Search in Google Scholar

3. Curatolo P, Bombardieri R, Jozwiak S. Tuberous Sclerosis. Lancet. 2008;372:657-668.10.1016/S0140-6736(08)61279-9Search in Google Scholar

4. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001;68,64-80.Search in Google Scholar

5. Ding Y, Wang J, Zhou S, et al. Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study. Front Genet. 2020;10;11:204.10.3389/fgene.2020.00204Search in Google Scholar

6. Glushkova M, Bojinova V, Koleva M, et al. Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes. J Genet. 2018;97(2):419-427.10.1007/s12041-018-0927-7Search in Google Scholar

7. Hasbani DM, Crino PB. Tuberous sclerosis complex. Handb Clin Neurol. 2018;148:813-822.10.1016/B978-0-444-64076-5.00052-1Search in Google Scholar

8. Jiangyi W, Gang G, Guohai S, et al. Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. Aging (Albany NY). 2020;12(1):756-766.10.18632/aging.102654Search in Google Scholar

9. Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. In: Adam MP, Ardinger HH, Pagon RA et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 1999 Jul 13 [updated 2018 Jul 12].Search in Google Scholar

10. Peron A, Au KS, Northrup H. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice. Am J Med Genet C Semin Med Genet. 2018;178(3):281–290.10.1002/ajmg.c.31651Search in Google Scholar

11. Roach Es, Gomez Mr, Northrup H. Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria. J Child Neurol. 1998;13(12):624-8.10.1177/088307389801301206Search in Google Scholar

12. Sancak O, Nellist M, Goedbloed M, et al. 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. Eur J Hum Genet. 2005;13, 731–741.Search in Google Scholar

13. Weiner DM, Ewalt DE, Roach ES, et al. The tuberous sclerosis complex. A comprehensive review. J Am Coll Surg. 1998; 187:548-61.10.1016/S1072-7515(98)00239-7Search in Google Scholar

14. Yang G, Shi ZN, Meng Y, et al. Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. Clin. Genet. 2017;91,764-768.Search in Google Scholar

eISSN:
2719-5384
Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Medicine, Basic Medical Science, Immunology, Clinical Medicine, other