239 related articles for article (PubMed ID: 32917966)
1. 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]
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.
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]
4. Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
Demir S; Yalçıntepe S; Atlı E; Yalçın Y; İkbal Atlı E; Eker D; Karal Y; Gürkan H
Balkan Med J; 2021 Nov; 38(6):341-347. PubMed ID: 34860161
[TBL] [Abstract][Full Text] [Related]
5. Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Manzanilla-Romero HH; Weis D; Schnaiter S; Rudnik-Schöneborn S
Am J Med Genet A; 2021 Dec; 185(12):3851-3858. PubMed ID: 34328706
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
Wang S; Sun H; Wang J; Gu X; Han L; Wu Y; Yan H; Han L; Zhang H; He Y
Mol Genet Genomic Med; 2021 Oct; 9(10):e1802. PubMed ID: 34480426
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
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. Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
Suspitsin EN; Yanus GA; Dorofeeva MY; Ledashcheva TA; Nikitina NV; Buyanova GV; Saifullina EV; Sokolenko AP; Imyanitov EN
J Hum Genet; 2018 May; 63(5):597-604. PubMed ID: 29476190
[TBL] [Abstract][Full Text] [Related]
12. Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J; Zhao W; Ou X; Zhao Z; Hu C; Sun M; Liu F; Deng J; Gu W; An J; Zhang Q; Zhang X; Xie J; Li S; Chen R; Yu S; Zhong N
PLoS One; 2019; 14(12):e0226400. PubMed ID: 31856217
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.
Camposano SE; Greenberg E; Kwiatkowski DJ; Thiele EA
Ann Hum Genet; 2009 Mar; 73(2):141-6. PubMed ID: 19133941
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B; Hamieh L; Hulshof HM; Lasseter K; Klonowska K; Kuijf H; Moavero R; Hertzberg C; Weschke B; Riney K; Feucht M; Scholl T; Krsek P; Nabbout R; Jansen AC; Benova B; Aronica E; Lagae L; Curatolo P; Borkowska J; Sadowski K; Domańska-Pakieła D; Janson S; Kozlowski P; Urbanska M; Jaworski J; Jozwiak S; Jansen FE; Kotulska K; ; Kwiatkowski DJ
Genet Med; 2020 Sep; 22(9):1489-1497. PubMed ID: 32461669
[TBL] [Abstract][Full Text] [Related]
17. Decoding of novel missense TSC2 gene variants using in-silico methods.
Sudarshan S; Kumar M; Kaur P; Kumar A; G S; Sapra S; Gulati S; Gupta N; Kabra M; Roy Chowdhury M
BMC Med Genet; 2019 Oct; 20(1):164. PubMed ID: 31655562
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
