307 related articles for article (PubMed ID: 16114042)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Bénit P; Bonnefont JP; Kara Mostefa A; Francannet C; Munnich A; Ray PF
Prenat Diagn; 2001 Apr; 21(4):279-83. PubMed ID: 11288117
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Dabora SL; Sigalas I; Hall F; Eng C; Vijg J; Kwiatkowski DJ
Ann Hum Genet; 1998 Nov; 62(Pt 6):491-504. PubMed ID: 10363127
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
Hass J; Mayer K; Rott HD
Hum Mutat; 2000 Jul; 16(1):88. PubMed ID: 10874311
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.
Plank TL; Logginidou H; Klein-Szanto A; Henske EP
Mod Pathol; 1999 May; 12(5):539-45. PubMed ID: 10349994
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J; Jozwiak S; Hall F; Henske EP; Haines JL; McNamara P; Braiser J; Wigowska-Sowinska J; Kasprzyk-Obara J; Short MP; Kwiatkowski DJ
Ann Hum Genet; 1998 Jul; 62(Pt 4):277-85. PubMed ID: 9924605
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex.
Al-Saleem T; Wessner LL; Scheithauer BW; Patterson K; Roach ES; Dreyer SJ; Fujikawa K; Bjornsson J; Bernstein J; Henske EP
Cancer; 1998 Nov; 83(10):2208-16. PubMed ID: 9827727
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC; Daniells CE; Snell RG; Tachataki M; Idziaszczyk SA; Krawczak M; Sampson JR; Cheadle JP
Hum Mol Genet; 1997 Nov; 6(12):2155-61. PubMed ID: 9328481
[TBL] [Abstract][Full Text] [Related]
20. Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.
Jobert S; Bragado-Nilsson E; Samolyk D; Pedespan JM; Marchal C; Reichert S; Mallet J; Pitiot G
Eur J Hum Genet; 1997; 5(5):280-7. PubMed ID: 9412784
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
