373 related articles for article (PubMed ID: 12015165)
1. Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
Yamamoto T; Pipo JR; Feng JH; Takeda H; Nanba E; Ninomiya H; Ohno K
Brain Dev; 2002 Jun; 24(4):227-30. PubMed ID: 12015165
[TBL] [Abstract][Full Text] [Related]
2. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y; Lawrence-Smith N; Banwell A; Hammer E; Lewis J; Beauchamp RL; Sims K; Ramesh V; Ozelius L
Hum Mutat; 1999; 14(5):412-22. PubMed ID: 10533067
[TBL] [Abstract][Full Text] [Related]
3. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL; Jozwiak S; Franz DN; Roberts PS; Nieto A; Chung J; Choy YS; Reeve MP; Thiele E; Egelhoff JC; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski DJ
Am J Hum Genet; 2001 Jan; 68(1):64-80. PubMed ID: 11112665
[TBL] [Abstract][Full Text] [Related]
4. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC; Daniells CE; Snell RG; Tachataki M; Idziaszczyk SA; Krawczak M; Sampson JR; Cheadle JP
Hum Mol Genet; 1997 Nov; 6(12):2155-61. PubMed ID: 9328481
[TBL] [Abstract][Full Text] [Related]
5.
He J; Zhou W; Shi J; Lin J; Zhang B; Sun Z
Genet Test Mol Biomarkers; 2020 Jan; 24(1):1-5. PubMed ID: 31855466
[No Abstract] [Full Text] [Related]
6. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC; Shyamsundar MM; Thomas MW; Maynard J; Idziaszczyk S; Tomkins S; Sampson JR; Cheadle JP
Am J Hum Genet; 1999 May; 64(5):1305-15. PubMed ID: 10205261
[TBL] [Abstract][Full Text] [Related]
7. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
Feng JH; Ding MP; Yang CW
Zhonghua Er Ke Za Zhi; 2003 Mar; 41(3):223-6. PubMed ID: 14756965
[TBL] [Abstract][Full Text] [Related]
8. 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; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
[TBL] [Abstract][Full Text] [Related]
9. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
[TBL] [Abstract][Full Text] [Related]
10. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
Yamashita Y; Ono J; Okada S; Wataya-Kaneda M; Yoshikawa K; Nishizawa M; Hirayama Y; Kobayashi E; Seyama K; Hino O
Am J Med Genet; 2000 Jan; 90(2):123-6. PubMed ID: 10607950
[TBL] [Abstract][Full Text] [Related]
11. Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
Niida Y; Wakisaka A; Tsuji T; Yamada H; Kuroda M; Mitani Y; Okumura A; Yokoi A
J Hum Genet; 2013 Apr; 58(4):216-25. PubMed ID: 23389244
[TBL] [Abstract][Full Text] [Related]
12. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H; Nanba E; Yamamoto T; Ninomiya H; Ohno K; Mizuguchi M; Takeshita K
J Hum Genet; 1999; 44(6):391-6. PubMed ID: 10570911
[TBL] [Abstract][Full Text] [Related]
13. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M; Girimaji SC; Markandaya M; Shukla AK; Sacchidanand S; Kumar A
Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
[TBL] [Abstract][Full Text] [Related]
14. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
Au KS; Rodriguez JA; Finch JL; Volcik KA; Roach ES; Delgado MR; Rodriguez E; Northrup H
Am J Hum Genet; 1998 Feb; 62(2):286-94. PubMed ID: 9463313
[TBL] [Abstract][Full Text] [Related]
15. Biallelic TSC gene inactivation in tuberous sclerosis complex.
Crino PB; Aronica E; Baltuch G; Nathanson KL
Neurology; 2010 May; 74(21):1716-23. PubMed ID: 20498439
[TBL] [Abstract][Full Text] [Related]
16. Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
Mayer K; Ballhausen W; Rott HD
Hum Mutat; 1999; 14(5):401-11. PubMed ID: 10533066
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
Choi JE; Chae JH; Hwang YS; Kim KJ
Brain Dev; 2006 Aug; 28(7):440-6. PubMed ID: 16554133
[TBL] [Abstract][Full Text] [Related]
18. Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.
Yu T; He Y; Li N; Zhou Y; Wang Z; Fu Q; Wang J; Wang J
Clin Neurol Neurosurg; 2017 Mar; 154():104-108. PubMed ID: 28178598
[TBL] [Abstract][Full Text] [Related]
19. Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2.
Maruyama H; Ohbayashi C; Hino O; Tsutsumi M; Konishi Y
Pathol Int; 2001 Aug; 51(8):585-94. PubMed ID: 11564212
[TBL] [Abstract][Full Text] [Related]
20. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Chan JA; Zhang H; Roberts PS; Jozwiak S; Wieslawa G; Lewin-Kowalik J; Kotulska K; Kwiatkowski DJ
J Neuropathol Exp Neurol; 2004 Dec; 63(12):1236-42. PubMed ID: 15624760
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
