153 related articles for article (PubMed ID: 22867869)
1. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
van Eeghen AM; Nellist M; van Eeghen EE; Thiele EA
Epilepsy Res; 2013 Jan; 103(1):83-7. PubMed ID: 22867869
[TBL] [Abstract][Full Text] [Related]
2. Epileptic spasms in tuberous sclerosis complex.
Hsieh DT; Jennesson MM; Thiele EA
Epilepsy Res; 2013 Sep; 106(1-2):200-10. PubMed ID: 23796861
[TBL] [Abstract][Full Text] [Related]
3. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG.
Muzykewicz DA; Costello DJ; Halpern EF; Thiele EA
Epilepsia; 2009 Feb; 50(2):290-6. PubMed ID: 18801034
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.
Chu-Shore CJ; Major P; Montenegro M; Thiele E
Neurology; 2009 Mar; 72(13):1165-9. PubMed ID: 19332694
[TBL] [Abstract][Full Text] [Related]
6. Severity of manifestations in tuberous sclerosis complex in relation to genotype.
Kothare SV; Singh K; Chalifoux JR; Staley BA; Weiner HL; Menzer K; Devinsky O
Epilepsia; 2014 Jul; 55(7):1025-9. PubMed ID: 24917535
[TBL] [Abstract][Full Text] [Related]
7. Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
Aronow ME; Nakagawa JA; Gupta A; Traboulsi EI; Singh AD
Ophthalmology; 2012 Sep; 119(9):1917-23. PubMed ID: 22608477
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.
Devlin LA; Shepherd CH; Crawford H; Morrison PJ
Dev Med Child Neurol; 2006 Jun; 48(6):495-9. PubMed ID: 16700943
[TBL] [Abstract][Full Text] [Related]
10. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
Sancak O; Nellist M; Goedbloed M; Elfferich P; Wouters C; Maat-Kievit A; Zonnenberg B; Verhoef S; Halley D; van den Ouweland A
Eur J Hum Genet; 2005 Jun; 13(6):731-41. PubMed ID: 15798777
[TBL] [Abstract][Full Text] [Related]
11. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
Jansen FE; Braams O; Vincken KL; Algra A; Anbeek P; Jennekens-Schinkel A; Halley D; Zonnenberg BA; van den Ouweland A; van Huffelen AC; van Nieuwenhuizen O; Nellist M
Neurology; 2008 Mar; 70(12):908-15. PubMed ID: 18032745
[TBL] [Abstract][Full Text] [Related]
12. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC; Su YN; Chien SC; Liou HH; Chen CC; Chen PC; Hsieh CJ; Chen CP; Lee WT; Lin WL; Lee CN
BMC Med Genet; 2006 Sep; 7():72. PubMed ID: 16981987
[TBL] [Abstract][Full Text] [Related]
13. Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.
Rok P; Kasprzyk-Obara J; Domańska-Pakieła D; Jóźwiak S
Med Sci Monit; 2005 May; 11(5):CR230-234. PubMed ID: 15874888
[TBL] [Abstract][Full Text] [Related]
14. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.
Gupta A; de Bruyn G; Tousseyn S; Krishnan B; Lagae L; Agarwal N;
Pediatr Neurol; 2020 May; 106():10-16. PubMed ID: 32139167
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.
Jeong A; Wong M
Epilepsia; 2016 Sep; 57(9):1443-9. PubMed ID: 27417921
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.
Lee JS; Lim BC; Chae JH; Hwang YS; Seong MW; Park SS; Kim KJ
Epileptic Disord; 2014 Dec; 16(4):449-55. PubMed ID: 25498131
[TBL] [Abstract][Full Text] [Related]
18. The ominous sequence in patients with tuberous sclerosis complex.
Yamada H; Akiyoshi K; Izumi T
Brain Dev; 2014 Mar; 36(3):254-8. PubMed ID: 23647917
[TBL] [Abstract][Full Text] [Related]
19. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y; Lawrence-Smith N; Banwell A; Hammer E; Lewis J; Beauchamp RL; Sims K; Ramesh V; Ozelius L
Hum Mutat; 1999; 14(5):412-22. PubMed ID: 10533067
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
