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Optimal temperature selection for mutation detection by denaturing HPLC and com…

Jones(A C),Austin(J),Hansen(N),Hoogendoorn(B… Clin Chem 1999-08-17

...TSC2. The samples consisted of 103 unique sequence heterozygotes and 126 wild-type homozygous controls.,At the temperatu...

Distribution of Tsc2 protein in various normal rat tissues and renal tumours of…

Fukuda(T),Kobayashi(T),Yasui(H),Tsutsumi(M),… Virchows Arch 1999-06-03

Alterations in the rat tuberous sclerosis gene (Tsc2) are responsible for the hereditary renal carcinomas (RCs) of Eker ...

Mutations in the TSC2 gene: analysis of the complete coding sequence using the …

van Bakel(I),Sepp(T),Ward(S),Yates(J R),Gree… Hum Mol Genet 1998-02-02

...TSC2 mutations using the protein truncation test (PTT). Three cases were predicted to be TSC2 mutations on the basis of ...

Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis…

Jobert(S),Bragado-Nilsson(E),Samolyk(D),Pede… Eur J Hum Genet 1998-01-21

...TSC2 in 16p13.3, to be involved in the disease. The TSC2 gene, composed of 41 exons, has been isolated and is shown to e...

Overexpression of members of the AP-1 transcriptional factor family from an ear…

Urakami(S),Tsuchiya(H),Orimoto(K),Kobayashi(… Biochem Biophys Res Commun 1998-01-15

...Tsc2 gene mutant (Eker) rat renal carcinomas (RCs). Among them, fra-1 encoding a transcriptional factor activator protei...

Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipoma…

Henske(E P),Wessner(L L),Golden(J),Scheithau… Am J Pathol 1998-01-02

...TSC2 gene, seen in both renal and central nervous system tumors from TSC patients? Second, when loss of tuberin occurs, ...

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic …

Yates(J R),van Bakel(I),Sepp(T),Payne(S J),W… Hum Mol Genet 1998-03-18

...TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding a mutation in TSC1...

Neonatal presentation of autosomal dominant polycystic kidney disease with a ma…

Griffin(M D),Gamble(V),Milliner(D S),Gomez(M… Nephrol Dial Transplant 1998-01-08

...TSC2 genes, which lie close together on chromosome 16. The phenomenon of anticipation, whereby disease presentation occu...

Malignant tumors of the kidney, brain, and soft tissues in children and young a…

Al-Saleem(T),Wessner(L L),Scheithauer(B W),P… Cancer 1998-12-01

...TSC2, and VHL genes.,Three patients (ages 7, 8, and 20 years) had renal cell carcinomas (RCCs). Two of these patients ha...

Development of high-grade renal cell carcinomas in rats independently of somati…

Toyokuni(S),Okada(K),Kondo(S),Nishioka(H),Ta… Jpn J Cancer Res 1998-10-23

...Tsc2 and VHL genes in rats, and that 2) Tsc2 gene somatic mutation can nonetheless be one of the causes of non-Eker rat ...

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