Molecular-Genetic Characteristics and Genotype-Phenotype Correlations in Bulgarian Patients with Tuberous Sclerosis Complex

Georgieva, B.; Koleva, M.; Todorov, T.; Bojinova, V.; Deneva, D.; Glushkova, M.; Aleksandrova, I.; Rodopska, E.; Miteva, A.; Mitev, V.; Todorova, A.

doi:10.2478/amb-2021-0020

References

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 Back to article
2. Crino Pb, Nathanson Kl, Henske Ep. The Tuberous Sclerosis Complex. N Engl J Med. 2006; 355:1345-1356.10.1056/NEJMra055323
Search in Google Scholar Back to article
3. Curatolo P, Bombardieri R, Jozwiak S. Tuberous Sclerosis. Lancet. 2008;372:657-668.10.1016/S0140-6736(08)61279-9
Search in Google Scholar Back to article
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 Back to article
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.2020.00204
Search in Google Scholar Back to article
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/s12041-018-0927-7
Search in Google Scholar Back to article
7. Hasbani DM, Crino PB. Tuberous sclerosis complex. Handb Clin Neurol. 2018;148:813-822.10.1016/B978-0-444-64076-5.00052-1
Search in Google Scholar Back to article
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.102654
Search in Google Scholar Back to article
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 Back to article
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.31651
Search in Google Scholar Back to article
11. Roach Es, Gomez Mr, Northrup H. Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria. J Child Neurol. 1998;13(12):624-8.10.1177/088307389801301206
Search in Google Scholar Back to article
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 Back to article
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)00239-7
Search in Google Scholar Back to article
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 Back to article

Molecular-Genetic Characteristics and Genotype-Phenotype Correlations in Bulgarian Patients with Tuberous Sclerosis Complex

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