440 related articles for article (PubMed ID: 35440050)
1. 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]
2. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9.
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]
10. Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex.
Kondo T; Niida Y; Mizuguchi M; Nagasaki Y; Ueno Y; Nishimura A
Leg Med (Tokyo); 2019 Feb; 36():37-40. PubMed ID: 30336374
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Sauter M; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; d'Augères GB; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen A; Kingswood JC;
Orphanet J Rare Dis; 2021 Jul; 16(1):301. PubMed ID: 34229737
[TBL] [Abstract][Full Text] [Related]
15. A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex.
Li X; Hu T; Liu J; Fang B; Geng X; Xiong Q; Zhang L; Jin Y; Liu X; Li L; Wang Y; Li R; Bai X; Yang H; Dai Y
J Genet Genomics; 2020 Dec; 47(12):735-742. PubMed ID: 33612456
[TBL] [Abstract][Full Text] [Related]
16. 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]
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. Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X; Glass JE; Kwiatkowski DJ; Towbin AJ; Li Y; Sund KL; Krueger DA; Franz DN; McCormack FX; Gupta N
Ann Am Thorac Soc; 2021 May; 18(5):815-819. PubMed ID: 33171065
[No Abstract] [Full Text] [Related]
19. Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.
Savini MN; Mingarelli A; Peron A; La Briola F; Cervi F; Alfano RM; Canevini MP; Vignoli A
Ital J Pediatr; 2020 Mar; 46(1):36. PubMed ID: 32216820
[TBL] [Abstract][Full Text] [Related]
20. Tuberous sclerosis in a patient from Nigeria.
Ekure EN; Addissie YA; Sokunbi OJ; Kruszka P; Muenke M; Adeyemo AA
Am J Med Genet A; 2019 Aug; 179(8):1423-1425. PubMed ID: 31140686
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
