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Superiority of denaturing high performance liquid chromatography over single-st…

Choy(Y S),Dabora(S L),Hall(F),Ramesh(V),Niid… Ann Hum Genet 2000-04-20

...TSC2. In a subsequent blinded analysis of 15 samples with 18 distinct TSC2 sequence variants originally detected by SSCP...

Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmon…

Astrinidis(A),Khare(L),Carsillo(T),Smolarek(… J Med Genet 2000-02-18

...TSC2. Twelve of the patients had known renal angiomyolipomas. No TSC2 mutations were detected. We did find three silent ...

[Current aspects of lymphangioleiomyomatosis].

Lacronique(J),Urban(T) Rev Pneumol Clin 2000-01-27

...TSC2 (16p 13.3). The TSC2 locus could be implicated in the pathogenesis of pulmonary LAM. LAM and BTS have similar clini...

Loss of heterozygosity is detected at chromosomes 1p35-36 (NB), 3p25 (VHL), 16p…

Lininger(R A),Zhuang(Z),Man(Y),Park(W S),Emm… Mod Pathol 2000-01-10

...TSC2/PKD1 gene region), 17p13 (TP53), 17q13 (NM23), and 22q12 (D22S683).,Among informative in situ and invasive apocrine...

Genetic mapping of a naturally occurring hereditary renal cancer syndrome in do…

Jónasdóttir(T J),Mellersh(C S),Moe(L),Heggeb… Proc Natl Acad Sci U S A 2000-05-17

...TSC2) and the tumor suppressor gene TP53. These data suggest that RCND may be caused by a previously unidentified tumor ...

Chromosomal assignment of canine TSC2, PKD1 and CLN3 genes by radiation hybrid-…

Jónasdóttir(T J),Mellersh(C S),Moe(L),Vignau… Anim Genet 2000-07-13

The canine tuberous sclerosis 2 (TSC2) gene has been mapped to canine chromosome 6 using a canine whole genome radiation...

Expression of the tuberous sclerosis complex gene products, hamartin and tuberi…

Gutmann(D H),Zhang(Y),Hasbani(M J),Goldberg(… Acta Neuropathol 2000-05-23

...TSC2 on chromosome 16p. Here, we report our analysis of TSC1 (hamartin) and TSC2 (tuberin) protein expression in the cen...

Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutatio…

Astrinidis(A),Kouvatsi(A),Nahmias(J),Povey(S… Hum Mutat 2000-02-02

...TSC2 gene. Eight novel intragenic polymorphisms have been found, one in intron 36 and seven in intron 4, with the use of...

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous s…

Zhang(H),Nanba(E),Yamamoto(T),Ninomiya(H),Oh… J Hum Genet 2000-01-27

We have surveyed the mutations of TSC1 and TSC2 from 38 (25 sporadic, 11 familial, and 2 unknown) Japanese patients with...

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese…

Yamashita(Y),Ono(J),Okada(S),Wataya-Kaneda(M… Am J Med Genet 2000-03-15

...TSC2 genes, using single-strand conformational polymorphism analysis and direct sequencing. Four possible pathogenic mut...

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