150 related articles for article (PubMed ID: 8990004)
1. Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
Au KS; Rodriguez JA; Rodriguez E; Dobyns WB; Delgado MR; Northrup H
Hum Mutat; 1997; 9(1):23-9. PubMed ID: 8990004
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. [DNA diagnosis in Czech patients with tuberous sclerosis].
Vrtĕl R; Santavá A; Santavý J; Polák P; Krejciríková E
Cas Lek Cesk; 2000 Apr; 139(7):203-7. PubMed ID: 10916206
[TBL] [Abstract][Full Text] [Related]
5. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q; Verhoef S; Tempelaars AM; Bakker PL; Vrtel R; Hesseling-Janssen AL; Nellist M; Oranje AP; Stroink H; Lindhout D; Halley DJ; van den Ouweland AM
Hum Mutat; 1998; 11(4):331-2. PubMed ID: 10215407
[TBL] [Abstract][Full Text] [Related]
9. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.
Kandt RS; Haines JL; Smith M; Northrup H; Gardner RJ; Short MP; Dumars K; Roach ES; Steingold S; Wall S
Nat Genet; 1992 Sep; 2(1):37-41. PubMed ID: 1303246
[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. 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]
12. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Langkau N; Martin N; Brandt R; Zügge K; Quast S; Wiegele G; Jauch A; Rehm M; Kuhl A; Mack-Vetter M; Zimmerhackl LB; Janssen B
Eur J Pediatr; 2002 Jul; 161(7):393-402. PubMed ID: 12111193
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. 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. [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]
17. 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]
18. 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]
19. Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
Goedbloed MA; Nellist M; Verhaaf B; Reuser AJ; Lindhout D; Sunde L; Verhoef S; Halley DJ; van den Ouweland AM
Eur J Hum Genet; 2001 Nov; 9(11):823-8. PubMed ID: 11781698
[TBL] [Abstract][Full Text] [Related]
20. Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder.
Knowles MA; Habuchi T; Kennedy W; Cuthbert-Heavens D
Cancer Res; 2003 Nov; 63(22):7652-6. PubMed ID: 14633685
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
