182 related articles for article (PubMed ID: 27776463)
1. A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.
Li W; Zhou P; Zhao C; Zhang Y
J Neurogenet; 2016; 30(3-4):285-287. PubMed ID: 27776463
[TBL] [Abstract][Full Text] [Related]
2.
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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. 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]
11. [Analysis of TSC gene mutation in a patient with tuberous sclerosis].
Zhang Z; Lyu Y; Mu Y; Yang H; Yang P; Liu Y; Liu L; Chen X; Sui W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):506-8. PubMed ID: 26252095
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. [Clinical and genetic study patients with tuberous sclerosis complex].
Rubilar C; López F; Troncoso M; Barrios A; Herrera L
Rev Chil Pediatr; 2017 Feb; 88(1):41-49. PubMed ID: 28288225
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Tyburczy ME; Wang JA; Li S; Thangapazham R; Chekaluk Y; Moss J; Kwiatkowski DJ; Darling TN
Hum Mol Genet; 2014 Apr; 23(8):2023-9. PubMed ID: 24271014
[TBL] [Abstract][Full Text] [Related]
18. Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.
Zheng LY; Lee YW; Han Y; Tang LL; Cheng YY; Dou JF; Zhou FS; Zheng XD; Wang HY; Wang PG; Gao M
J Dermatol; 2018 Jul; 45(7):867-870. PubMed ID: 29740858
[TBL] [Abstract][Full Text] [Related]
19. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
Ismail NF; Nik Abdul Malik NM; Mohseni J; Rani AM; Hayati F; Salmi AR; Narazah MY; Zabidi-Hussin ZA; Silawati AR; Keng WT; Ngu LH; Sasongko TH
Jpn J Clin Oncol; 2014 May; 44(5):506-11. PubMed ID: 24683199
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]