| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Y Yamashita, J Ono, S Okada, M Wataya-Kaneda, K Yoshikawa, M Nishizawa, Y Hirayama, E Kobayashi, K Seyama, O Hin. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. American journal of medical genetics. vol 90. issue 2. 2000-03-15. PMID:10607950. |
analysis of all exons of tsc1 and tsc2 genes for germline mutations in japanese patients with tuberous sclerosis: report of 10 mutations. |
2000-03-15 |
2023-08-12 |
Not clear |
| Y Yamashita, J Ono, S Okada, M Wataya-Kaneda, K Yoshikawa, M Nishizawa, Y Hirayama, E Kobayashi, K Seyama, O Hin. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. American journal of medical genetics. vol 90. issue 2. 2000-03-15. PMID:10607950. |
twenty-seven japanese patients with the tuberous sclerosis complex (tsc), consisting of 23 sporadic and 4 familial cases, were tested for mutations in the tsc1 and tsc2 genes, using single-strand conformational polymorphism analysis and direct sequencing. |
2000-03-15 |
2023-08-12 |
Not clear |
| M Smith, D Sperlin. Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas. American journal of medical genetics. vol 84. issue 4. 2000-02-18. PMID:10340649. |
tuberous sclerosis (tsc) is a dominantly inherited disorder due to mutations at two gene loci, the tsc1 locus on chromosome 9q34 and the tsc2 locus on chromosome 16p13.3. |
2000-02-18 |
2023-08-12 |
Not clear |
| A Astrinidis, L Khare, T Carsillo, T Smolarek, K S Au, H Northrup, E P Hensk. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. Journal of medical genetics. vol 37. issue 1. 2000-02-18. PMID:10633137. |
mutational analysis of the tuberous sclerosis gene tsc2 in patients with pulmonary lymphangioleiomyomatosis. |
2000-02-18 |
2023-08-12 |
Not clear |
| A Astrinidis, A Kouvatsi, J Nahmias, S Povey, C Pandeliadis, A Danzaki, M Schneider, C Triantaphyllidi. Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. Online. Human mutation. vol 12. issue 3. 2000-02-02. PMID:10660335. |
novel intragenic polymorphisms in the tuberous sclerosis 2 (tsc2) gene. |
2000-02-02 |
2023-08-12 |
Not clear |
| A Astrinidis, A Kouvatsi, J Nahmias, S Povey, C Pandeliadis, A Danzaki, M Schneider, C Triantaphyllidi. Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. Online. Human mutation. vol 12. issue 3. 2000-02-02. PMID:10660335. |
twenty-three unrelated patients with tuberous sclerosis have been screened for the presence of mutations in six regions of the tsc2 gene. |
2000-02-02 |
2023-08-12 |
Not clear |
| H Zhang, E Nanba, T Yamamoto, H Ninomiya, K Ohno, M Mizuguchi, K Takeshit. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. Journal of human genetics. vol 44. issue 6. 2000-01-27. PMID:10570911. |
mutational analysis of tsc1 and tsc2 genes in japanese patients with tuberous sclerosis complex. |
2000-01-27 |
2023-08-12 |
human |
| H Zhang, E Nanba, T Yamamoto, H Ninomiya, K Ohno, M Mizuguchi, K Takeshit. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. Journal of human genetics. vol 44. issue 6. 2000-01-27. PMID:10570911. |
we have surveyed the mutations of tsc1 and tsc2 from 38 (25 sporadic, 11 familial, and 2 unknown) japanese patients with tuberous sclerosis complex. |
2000-01-27 |
2023-08-12 |
human |
| J Lacronique, T Urba. [Current aspects of lymphangioleiomyomatosis]. Revue de pneumologie clinique. vol 55. issue 5. 2000-01-27. PMID:10637892. |
two gene loci are formally implicated in the pathogenesis of bourneville tuberous sclerosis (bts): tsc1 (9q 34.3) and tsc2 (16p 13.3). |
2000-01-27 |
2023-08-12 |
Not clear |
| K Mayer, W Ballhausen, H D Rot. Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. Human mutation. vol 14. issue 5. 2000-01-06. PMID:10533066. |
mutation analyses in tuberous sclerosis (tsc) have reported a wide variety of disease-causing aberrations in the two known predisposing genes, tsc1 and tsc2 on chromosomes 9q34 and 16p13, comprising mainly small mutations distributed over the entire genes. |
2000-01-06 |
2023-08-12 |
Not clear |
| Y Niida, N Lawrence-Smith, A Banwell, E Hammer, J Lewis, R L Beauchamp, K Sims, V Ramesh, L Ozeliu. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Human mutation. vol 14. issue 5. 2000-01-06. PMID:10533067. |
analysis of both tsc1 and tsc2 for germline mutations in 126 unrelated patients with tuberous sclerosis. |
2000-01-06 |
2023-08-12 |
Not clear |
| K J Brackley, P A Farndon, J B Weaver, D J Dow, S Chapman, M D Kilb. Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation. Prenatal diagnosis. vol 19. issue 6. 1999-12-02. PMID:10416977. |
a mechanism is proposed to explain the variable expression of tuberous sclerosis within this family based on altered tsc2 activity affecting neuronal migration. |
1999-12-02 |
2023-08-12 |
Not clear |
| Y Arai, C A Ackerley, L E Becke. Loss of the TSC2 product tuberin in subependymal giant-cell tumors. Acta neuropathologica. vol 98. issue 3. 1999-10-20. PMID:10483779. |
we investigated immunocytochemically the expression of tuberin, the tsc2 gene product, in brain resections from children with and without tuberous sclerosis, to characterize the phenotype of balloon and tumor cells, and to elucidate the relationship between tuberin and formation of subependymal giant-cell tumors. |
1999-10-20 |
2023-08-12 |
Not clear |
| H Onda, A Lueck, P W Marks, H B Warren, D J Kwiatkowsk. Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. The Journal of clinical investigation. vol 104. issue 6. 1999-10-13. PMID:10491404. |
tuberous sclerosis (tsc) is an autosomal dominant genetic disorder in which benign hamartomas develop in multiple organs, caused by mutations in either tsc1 or tsc2. |
1999-10-13 |
2023-08-12 |
mouse |
| A H Sarker, S Ikeda, H Nakano, H Terato, H Ide, K Imai, K Akiyama, K Tsutsui, Z Bo, K Kubo, K Yamamoto, A Yasui, M C Yoshida, S Sek. Cloning and characterization of a mouse homologue (mNthl1) of Escherichia coli endonuclease III. Journal of molecular biology. vol 282. issue 4. 1999-07-12. PMID:9743625. |
the mnthl1 gene was shown to lie immediately adjacent to the tuberous sclerosis 2 (tsc2) gene in a 5'-to-5' orientation by sequence analysis and was assigned to chromosome 17a3 by in situ hybridization. |
1999-07-12 |
2023-08-12 |
mouse |
| S Verhoef, R Vrtel, L Bakker, I Stolte-Dijkstra, M Nellist, J H Begeer, J Zaremba, S Jozwiak, A M Tempelaars, D Lindhout, D J Halley, A M van den Ouwelan. Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene. Human mutation. vol Suppl 1. 1999-06-30. PMID:9452050. |
recurrent mutation 4882deltt in the gap-related domain of the tuberous sclerosis tsc2 gene. |
1999-06-30 |
2023-08-12 |
Not clear |
| S Verhoef, L Bakker, A M Tempelaars, A L Hesseling-Janssen, T Mazurczak, S Jozwiak, A Fois, G Bartalini, B A Zonnenberg, A J van Essen, D Lindhout, D J Halley, A M van den Ouwelan. High rate of mosaicism in tuberous sclerosis complex. American journal of human genetics. vol 64. issue 6. 1999-06-24. PMID:10330349. |
six families with mosaicism are identified in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (tsc) genes, tsc1 or tsc2. |
1999-06-24 |
2023-08-12 |
Not clear |
| M van Slegtenhorst, S Verhoef, A Tempelaars, L Bakker, Q Wang, M Wessels, R Bakker, M Nellist, D Lindhout, D Halley, A van den Ouwelan. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. Journal of medical genetics. vol 36. issue 4. 1999-06-10. PMID:10227394. |
tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the tsc1 or tsc2 gene. |
1999-06-10 |
2023-08-12 |
Not clear |
| R L Beauchamp, A Banwell, P McNamara, M Jacobsen, E Higgins, H Northrup, P Short, K Sims, L Ozelius, V Rames. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Human mutation. vol 12. issue 6. 1999-06-04. PMID:9829910. |
exon scanning of the entire tsc2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. |
1999-06-04 |
2023-08-12 |
Not clear |
| M W Johnson, J K Emelin, S H Park, H V Vinter. Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis. Brain pathology (Zurich, Switzerland). vol 9. issue 1. 1999-06-03. PMID:9989450. |
co-localization of tsc1 and tsc2 gene products in tubers of patients with tuberous sclerosis. |
1999-06-03 |
2023-08-12 |
Not clear |