194 related articles for article (PubMed ID: 34433328)
1. Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation.
Qiao L; Yang Y; Yue D
J Int Med Res; 2021 Aug; 49(8):3000605211035895. PubMed ID: 34433328
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4.
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]
5. [Genetic screening and prenatal diagnosis in high-risk families with tuberous sclerosis complex syndrome].
Lin R; Zhao Z; Liu L; Wang C; Chen C; Liu N; Meng J; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):435-438. PubMed ID: 33974250
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.
Yang MH; Wang ZK; Huang Y; Lv SQ; Zhang CQ; Zhu YY; Yang QW; Liu SY
Childs Nerv Syst; 2021 Jan; 37(1):253-257. PubMed ID: 32533299
[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. Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.
Gao S; Wang Z; Xie Y
Medicine (Baltimore); 2018 Jul; 97(29):e11533. PubMed ID: 30024541
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
Robinson J; Uzun O; Loh NR; Harris IR; Woolley TE; Harwood AJ; Gardner JF; Syed YA
BMC Med; 2022 Apr; 20(1):123. PubMed ID: 35440050
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.
Fu J; Liang P; Zheng Y; Xu C; Xiong F; Yang F
Gene; 2024 May; 909():148312. PubMed ID: 38412945
[TBL] [Abstract][Full Text] [Related]
18. Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
Ryu SW; Yoon JH; Kim DW; Han B; Han H; Han J; Lee H; Seo GH; Lee BH
Mol Genet Genomic Med; 2024 Mar; 12(3):e2330. PubMed ID: 38265426
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].
Liu W; Li F; He Z; Ai R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):68-71. PubMed ID: 34964971
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
