132 related articles for article (PubMed ID: 24770934)
1. A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.
Hu HJ; Chung YJ; Yoo HW; Kim YH; Eom TH
Neurol Sci; 2014 Sep; 35(9):1487-9. PubMed ID: 24770934
[No Abstract] [Full Text] [Related]
2. A novel TSC2 mutation causing tuberless tuberous sclerosis.
Giannantoni NM; Restuccia D; Della Marca G; Alfano RM; Vollono C
Seizure; 2014 Aug; 23(7):580-2. PubMed ID: 24794161
[No Abstract] [Full Text] [Related]
3. A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.
Yu Z; Zhang X; Guo H; Bai Y
J Genet; 2014 Apr; 93(1):169-72. PubMed ID: 24840834
[No Abstract] [Full Text] [Related]
4. Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
Fox J; Ben-Shachar S; Uliel S; Svirsky R; Saitsu H; Matsumoto N; Fattal-Valevski A
Am J Med Genet A; 2017 Mar; 173(3):744-748. PubMed ID: 28127866
[TBL] [Abstract][Full Text] [Related]
5. Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines.
He L; Ye W; Chen Z; Meng X; Jiang H
Childs Nerv Syst; 2020 Sep; 36(9):1827-1830. PubMed ID: 32647919
[No Abstract] [Full Text] [Related]
6. Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
Jang MA; Hong SB; Lee JH; Lee MH; Chung MP; Shin HJ; Kim JW; Ki CS
Pediatr Neurol; 2012 Apr; 46(4):222-4. PubMed ID: 22490766
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.
Zhao XY; Yang S; Zhou HL; Zhu YG; Wei L; Du WH; Ren YQ; Liang YH; Hou YX; Chen JJ; Zhang XJ
Br J Dermatol; 2006 Nov; 155(5):1070-3. PubMed ID: 17034546
[No Abstract] [Full Text] [Related]
9. Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.
Mayer K; Goedbloed M; van Zijl K; Nellist M; Rott HD
J Med Genet; 2004 May; 41(5):e64. PubMed ID: 15121792
[No Abstract] [Full Text] [Related]
10. Tuberous sclerosis: diagnosis and prenatal diagnosis by MLPA.
Padma Priya T; Dalal AB
Indian J Pediatr; 2012 Oct; 79(10):1366-9. PubMed ID: 21541650
[TBL] [Abstract][Full Text] [Related]
11. Tuberous sclerosis complex: multisystem hamartomas.
Naderi N; Timofte I; McCurdy MT; Reed RM
BMJ Case Rep; 2015 Jan; 2015():. PubMed ID: 25618887
[No Abstract] [Full Text] [Related]
12. TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS; Gibson WT; Sparagana SP; Nellist M; Stumpel CT; Hietala M; Friedman E; Pearson DA; Creighton SP; Wagemans A; Segel R; Ben-Shalom E; Au KS; Northrup H
Am J Med Genet A; 2017 Mar; 173(3):771-775. PubMed ID: 28211972
[TBL] [Abstract][Full Text] [Related]
13. Tuberous sclerosis and cardiac rhabdomyomas: a case report and review of the literature.
Madueme P; Hinton R
Congenit Heart Dis; 2011; 6(2):183-7. PubMed ID: 21418539
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.
Yuan CD; Chang XL; Gao M; Xiao FL; Wu YQ; Liu Q; Shen SK; Liu JL; Du WH; Liu JJ; Yang S; Zhang XJ; Zhou FS; Fang QY
J Dermatol Sci; 2008 Jan; 49(1):92-4. PubMed ID: 17888633
[No Abstract] [Full Text] [Related]
16. Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.
Hardy R; Shepherd CW; Donnelly DE; McKee SA; Morrison PJ
Oncologist; 2012; 17(7):925-6. PubMed ID: 22707510
[TBL] [Abstract][Full Text] [Related]
17. Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.
Hwang SK; Lee JH; Yang JE; Lim CS; Lee JA; Lee YS; Lee K; Kaang BK
Mol Brain; 2016 May; 9(1):56. PubMed ID: 27216612
[TBL] [Abstract][Full Text] [Related]
18. The tuberous sclerosis complex.
Crino PB; Nathanson KL; Henske EP
N Engl J Med; 2006 Sep; 355(13):1345-56. PubMed ID: 17005952
[No Abstract] [Full Text] [Related]
19. Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.
Liu Q; Huang Y; Zhang M; Wang LQ; Guo XN; Si N; Qi Z; Zhou XQ; Cui LY
J Child Neurol; 2015 Apr; 30(5):610-4. PubMed ID: 24789117
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
