187 related articles for article (PubMed ID: 17120248)
1. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC; Sancak O; D'Agostino MD; Badhwar A; Roberts P; Gobbi G; Wilkinson R; Melanson D; Tampieri D; Koenekoop R; Gans M; Maat-Kievit A; Goedbloed M; van den Ouweland AMW; Nellist M; Pandolfo M; McQueen M; Sims K; Thiele EA; Dubeau F; Andermann F; Kwiatkowski DJ; Halley DJJ; Andermann E
Ann Neurol; 2006 Nov; 60(5):528-539. PubMed ID: 17120248
[TBL] [Abstract][Full Text] [Related]
2. 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]
3.
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]
4. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
Au KS; Rodriguez JA; Finch JL; Volcik KA; Roach ES; Delgado MR; Rodriguez E; Northrup H
Am J Hum Genet; 1998 Feb; 62(2):286-94. PubMed ID: 9463313
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Le Caignec C; Kwiatkowski DJ; Küry S; Hardouin JB; Melki J; David A
Eur J Hum Genet; 2009 Sep; 17(9):1165-70. PubMed ID: 19259131
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
van Eeghen AM; Black ME; Pulsifer MB; Kwiatkowski DJ; Thiele EA
Eur J Hum Genet; 2012 May; 20(5):510-5. PubMed ID: 22189265
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Wentink M; Nellist M; Hoogeveen-Westerveld M; Zonnenberg B; van der Kolk D; van Essen T; Park SM; Woods G; Cohn-Hokke P; Brussel W; Smeets E; Brooks A; Halley D; van den Ouweland A; Maat-Kievit A
Clin Genet; 2012 May; 81(5):453-61. PubMed ID: 21332470
[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 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]
14. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
Tyburczy ME; Jozwiak S; Malinowska IA; Chekaluk Y; Pugh TJ; Wu CL; Nussbaum RL; Seepo S; Dzik T; Kotulska K; Kwiatkowski DJ
Hum Mol Genet; 2015 Apr; 24(7):1836-42. PubMed ID: 25432535
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [Analysis of TSC gene mutations in five patients with tuberous sclerosis complex].
Liu L; Zhang Z; Mu Y; Xiong F; Yang H; Yang P; Liu Y; Chen X; Sui W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):164-168. PubMed ID: 28397210
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
Maheshwar MM; Cheadle JP; Jones AC; Myring J; Fryer AE; Harris PC; Sampson JR
Hum Mol Genet; 1997 Oct; 6(11):1991-6. PubMed ID: 9302281
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]