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Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes.

Vinters(H V),Park(S H),Johnson(M W),Mischel(… Dev Neurosci 2000-02-10

...TSC2, which encode (respectively) the proteins hamartin and tuberin. There is circumstantial evidence that both proteins...

Novel cerebral lesions in the Eker rat model of tuberous sclerosis: cortical tu…

Mizuguchi(M),Takashima(S),Yamanouchi(H),Naka… J Neuropathol Exp Neurol 2000-04-07

...Tsc2 gene. We describe here histological and immunohistochemical findings of the brain lesions in Eker rats, with emphas...

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

Gilbert(J R),Guy(V),Kumar(A),Wolpert(C),Kand… Neurogenetics 2000-04-13

...TSC2 locus and 26 are either sporadic or too small to establish chromosome linkage. The TSC2 gene spans at least 45 kilo...

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...

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