531 related articles for article (PubMed ID: 18032745)
1. 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]
2. Cognitive impairment in tuberous sclerosis complex is a multifactorial condition.
Jansen FE; Vincken KL; Algra A; Anbeek P; Braams O; Nellist M; Zonnenberg BA; Jennekens-Schinkel A; van den Ouweland A; Halley D; van Huffelen AC; van Nieuwenhuizen O
Neurology; 2008 Mar; 70(12):916-23. PubMed ID: 18032744
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
Mayer K; Ballhausen W; Rott HD
Hum Mutat; 1999; 14(5):401-11. PubMed ID: 10533066
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
Yamashita Y; Ono J; Okada S; Wataya-Kaneda M; Yoshikawa K; Nishizawa M; Hirayama Y; Kobayashi E; Seyama K; Hino O
Am J Med Genet; 2000 Jan; 90(2):123-6. PubMed ID: 10607950
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H; Nanba E; Yamamoto T; Ninomiya H; Ohno K; Mizuguchi M; Takeshita K
J Hum Genet; 1999; 44(6):391-6. PubMed ID: 10570911
[TBL] [Abstract][Full Text] [Related]
15. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
van Slegtenhorst M; Verhoef S; Tempelaars A; Bakker L; Wang Q; Wessels M; Bakker R; Nellist M; Lindhout D; Halley D; van den Ouweland A
J Med Genet; 1999 Apr; 36(4):285-9. PubMed ID: 10227394
[TBL] [Abstract][Full Text] [Related]
16. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease.
Astrinidis A; Henske EP
Oncogene; 2005 Nov; 24(50):7475-81. PubMed ID: 16288294
[TBL] [Abstract][Full Text] [Related]
17. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M; Girimaji SC; Markandaya M; Shukla AK; Sacchidanand S; Kumar A
Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.
Jóźwiak S; Kotulska K; Kasprzyk-Obara J; Domańska-Pakieła D; Tomyn-Drabik M; Roberts P; Kwiatkowski D
Pediatrics; 2006 Oct; 118(4):e1146-51. PubMed ID: 16940165
[TBL] [Abstract][Full Text] [Related]
19. Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng JH; Yamamoto T; Nanba E; Ninomiya H; Oka A; Ohno K
Hum Mutat; 2004 Apr; 23(4):397. PubMed ID: 15024740
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
