574 related articles for article (PubMed ID: 16554133)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.
Sasongko TH; Wataya-Kaneda M; Koterazawa K; Gunadi ; Yusoff S; Harahap IS; Lee MJ; Matsuo M; Nishio H
Kobe J Med Sci; 2008 May; 54(1):E73-81. PubMed ID: 18772611
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
Beauchamp RL; Banwell A; McNamara P; Jacobsen M; Higgins E; Northrup H; Short P; Sims K; Ozelius L; Ramesh V
Hum Mutat; 1998; 12(6):408-16. PubMed ID: 9829910
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.
Apak A; Haliloğlu G; Köse G; Yilmaz E; Anlar B; Aysun S
Turk J Pediatr; 2003; 45(1):1-5. PubMed ID: 12718362
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
Sato T; Seyama K; Fujii H; Maruyama H; Setoguchi Y; Iwakami S; Fukuchi Y; Hino O
J Hum Genet; 2002; 47(1):20-8. PubMed ID: 11829138
[TBL] [Abstract][Full Text] [Related]
18. [Mutation screening and prenatal diagnosis of tuberous sclerosis complex].
Li W; Zhou LH; Gao BD; Li LY; Zhong CG; Gong F; Xiao HM; Song T; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug; 28(4):361-6. PubMed ID: 21811971
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]