207 related articles for article (PubMed ID: 26703369)
1. Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R; Nellist M; Hoogeveen-Westerveld M; Wentink M; Panzer J; Sparagana S; Emmett W; Dawson NL; Malinge MC; Nabbout R; Carbonara C; Barberis M; Padovan S; Futema M; Plagnol V; Humphries SE; Migone N; Povey S
Hum Mutat; 2016 Apr; 37(4):364-70. PubMed ID: 26703369
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5.
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]
6. 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]
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. 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]
9. 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]
10. Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
Peron A; Vignoli A; Briola F; Morenghi E; Tansini L; Alfano RM; Bulfamante G; Terraneo S; Ghelma F; Banderali G; Viskochil DH; Carey JC; Canevini MP;
Eur J Med Genet; 2018 Jul; 61(7):403-410. PubMed ID: 29432982
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
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. [Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].
Caicedo-Herrera G; Candelo E; Pachajoa H
Arch Argent Pediatr; 2017 Oct; 115(5):e287-e290. PubMed ID: 28895704
[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. 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]
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. Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.
Zhang R; Wang J; Wang Q; Han Y; Liu X; Bottillo I; Lang Y; Shao L
BMC Med Genet; 2018 Sep; 19(1):173. PubMed ID: 30236073
[TBL] [Abstract][Full Text] [Related]
19. The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
Yang HM; Choi HJ; Hong DP; Joo SY; Lee NE; Song JY; Choi YL; Lee J; Choi D; Kim B; Park HJ; Park JB; Kim SJ
Exp Mol Pathol; 2014 Dec; 97(3):440-4. PubMed ID: 25281918
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
