367 related articles for article (PubMed ID: 32555378)
1. 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]
2. 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]
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. 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]
5. 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]
6.
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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
Nellist M; Sancak O; Goedbloed M; Adriaans A; Wessels M; Maat-Kievit A; Baars M; Dommering C; van den Ouweland A; Halley D
BMC Med Genet; 2008 Feb; 9():10. PubMed ID: 18302728
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY; Luk HM; Hau EW; Cheng SS; Yu KP; Ho S; Mok MT; Lo IF
Eur J Med Genet; 2022 Oct; 65(10):104573. PubMed ID: 35918040
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]