327 related articles for article (PubMed ID: 31855466)
1.
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]
2. 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]
3. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
Meng Y; Yu C; Chen M; Yu X; Sun M; Yan H; Zhao W; Yu S
J Hum Genet; 2021 Mar; 66(3):227-236. PubMed ID: 32917966
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted
Kovesdi E; Ripszam R; Postyeni E; Horvath EB; Kelemen A; Fabos B; Farkas V; Hadzsiev K; Sumegi K; Magyari L; Moreno PG; Bauer P; Melegh B
Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573383
[TBL] [Abstract][Full Text] [Related]
6. Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.
Lee JS; Lim BC; Chae JH; Hwang YS; Seong MW; Park SS; Kim KJ
Epileptic Disord; 2014 Dec; 16(4):449-55. PubMed ID: 25498131
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S; Fostira F; Vagena A; Ninios Y; Delimitsou A; Vodicka R; Vrtel R; Youroukos S; Stravopodis DJ; Vlassi M; Astrinidis A; Yannoukakos D; Voutsinas GE
Sci Rep; 2017 Dec; 7(1):16697. PubMed ID: 29196670
[TBL] [Abstract][Full Text] [Related]
9. Genetic analysis of 18 families with tuberous sclerosis complex.
Yin K; Lin N; Lu Q; Jin L; Huang Y; Zhou X; Xu K; Liu Q; Zhang X
Neurogenetics; 2022 Jul; 23(3):223-230. PubMed ID: 35596872
[TBL] [Abstract][Full Text] [Related]
10. First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME; Hernández-Martínez NL; Alcántara-Ortigoza MA; Ayala-Sumuano JT; Enríquez-Flores S; Velázquez-Aragón JA; Varela-Echavarría A; Todd-Quiñones CG; González-Del Angel A
Sci Rep; 2020 Apr; 10(1):6589. PubMed ID: 32313033
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.
Wang GX; Wang DW; Yi CY; Qu JS; Wang YL
Genet Mol Res; 2013 Apr; 12(2):1168-75. PubMed ID: 23661441
[TBL] [Abstract][Full Text] [Related]
14. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T; Nanhoe S; de Almeida LGD; Schönewolf-Greulich B; Larsen LJ; Hey CAB; Dunø M; Ek J; Risom L; Nellist M; Møller LB
Sci Rep; 2020 Jun; 10(1):9909. PubMed ID: 32555378
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.
Yang G; Shi ZN; Meng Y; Shi XY; Pang LY; Ma SF; Zhang MN; Wang YY; Zou LP
Clin Genet; 2017 May; 91(5):764-768. PubMed ID: 27859028
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S; Ura H; Hatanaka H; Niida Y
Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232477
[TBL] [Abstract][Full Text] [Related]
18. Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort.
Ding Y; Zhou Y; Yu L; Zhang L; Zhou S; Wang Y; Wang J
Seizure; 2021 Oct; 91():273-277. PubMed ID: 34252879
[TBL] [Abstract][Full Text] [Related]
19. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K; Giannikou K; Grevelink JM; Boeszoermenyi B; Thorner AR; Herbert ZT; Afrin A; Treichel AM; Hamieh L; Kotulska K; Jozwiak S; Moss J; Darling TN; Kwiatkowski DJ
Am J Hum Genet; 2023 Jun; 110(6):979-988. PubMed ID: 37141891
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex.
Mi CR; Wang H; Jiang H; Sun RP; Wang GX
Genet Mol Res; 2014 Mar; 13(1):2102-6. PubMed ID: 24737435
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]