182 related articles for article (PubMed ID: 26728384)
1. [Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
Huang C
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi; 2016 Jan; 32(1):92-5. PubMed ID: 26728384
[TBL] [Abstract][Full Text] [Related]
2. Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
Ismail NF; Rani AQ; Nik Abdul Malik NM; Boon Hock C; Mohd Azlan SN; Abdul Razak S; Keng WT; Ngu LH; Silawati AR; Yahya NA; Mohd Yusoff N; Sasongko TH; Zabidi-Hussin ZA
J Mol Diagn; 2017 Mar; 19(2):265-276. PubMed ID: 28087349
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing].
Wang Y; Lin Y; Luo C; Liang D; Ji X; Jiang T; Ma D; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):169-72. PubMed ID: 27060308
[TBL] [Abstract][Full Text] [Related]
5. Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
Papadopoulou A; Dinopoulos A; Koutsodontis G; Pons R; Vorgia P; Koute V; Vratimos A; Zafeiriou D
Eur J Paediatr Neurol; 2018 May; 22(3):419-426. PubMed ID: 29500070
[TBL] [Abstract][Full Text] [Related]
6. [Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex].
Pan Y; Wu W; Luo C; Xie J; Xu Z; Geng Q; Hao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):18-22. PubMed ID: 29419853
[TBL] [Abstract][Full Text] [Related]
7. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
Feng JH; Ding MP; Yang CW
Zhonghua Er Ke Za Zhi; 2003 Mar; 41(3):223-6. PubMed ID: 14756965
[TBL] [Abstract][Full Text] [Related]
8. Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
Cai Y; Li H; Zhang Y
Urology; 2017 Mar; 101():170.e1-170.e7. PubMed ID: 28065512
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.
Yu T; He Y; Li N; Zhou Y; Wang Z; Fu Q; Wang J; Wang J
Clin Neurol Neurosurg; 2017 Mar; 154():104-108. PubMed ID: 28178598
[TBL] [Abstract][Full Text] [Related]
13. Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
Suspitsin EN; Yanus GA; Dorofeeva MY; Ledashcheva TA; Nikitina NV; Buyanova GV; Saifullina EV; Sokolenko AP; Imyanitov EN
J Hum Genet; 2018 May; 63(5):597-604. PubMed ID: 29476190
[TBL] [Abstract][Full Text] [Related]
14. Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M; Brouwer RW; Kockx CE; van Veghel-Plandsoen M; Withagen-Hermans C; Prins-Bakker L; Hoogeveen-Westerveld M; Mrsic A; van den Berg MM; Koopmans AE; de Wit MC; Jansen FE; Maat-Kievit AJ; van den Ouweland A; Halley D; de Klein A; van IJcken WF
BMC Med Genet; 2015 Feb; 16():10. PubMed ID: 25927202
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C; Vairo F; Bandeira IC; Correia RL; de Goes FV; da Silva RTB; Bueno LSM; de Miranda Gomes MCS; Galvão HCR; Neri JICF; Achatz MI; Netto CBO; Ashton-Prolla P
PLoS One; 2017; 12(10):e0185713. PubMed ID: 28968464
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [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]
[Next] [New Search]
