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Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p1…

Smolarek(T A),Wessner(L L),McCormack(F X),My… Am J Hum Genet 1998-06-10

...TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. W...

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

van Slegtenhorst(M),Nellist(M),Nagelkerken(B… Hum Mol Genet 1998-06-19

Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppre...

[The results of recent research in neurocutaneous syndromes].

Ohno(K) No To Hattatsu 1998-04-27

Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests t...

Bilateral multiple renal oncocytomas and cysts associated with a constitutional…

Teh(B T),Blennow(E),Giraud(S),Sahlén(S),Hii(… Genes Chromosomes Cancer 1998-05-04

...TSC1), which is associated with renal tumors, we performed FISH with two TSC1 flanking cosmids that were mapped proximal...

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

...TSC1 in 9q34 and TSC2 in 16p13.3, to be involved in the disease. The TSC2 gene, composed of 41 exons, has been isolated ...

On the surgical treatment of refractory epilepsy in tuberous sclerosis complex.

Baumgartner(J E),Wheless(J W),Kulkarni(S),No… Pediatr Neurosurg 1998-09-08

...TSC1 gene in case 1 and the TSC2 gene in case 2; no mutations have been identified yet in cases 3 and 4. Temporal lobect...

Tuberous sclerosis gene 2 product modulates transcription mediated by steroid h…

Henry(K W),Yuan(X),Koszewski(N J),Onda(H),Kw… J Biol Chem 1998-09-10

...TSC1 and TSC2) for both loci have recently been cloned, their function remains an enigma. Data presented here demonstrat...

Tuberous sclerosis: between genetic and physical analysis.

Halley(D J) Acta Genet Med Gemellol (Roma) 1997-01-13

...TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of TSC2 mutations are probably subtle alterations. In som...

Molecular genetic and phenotypic analysis reveals differences between TSC1 and …

Jones(A C),Daniells(C E),Snell(R G),Tachatak… Hum Mol Genet 1997-12-19

...TSC1 and TSC2 phenotypes have been considered identical. We have now comprehensively defined the TSC1 mutational spectru...

Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation …

Kwiatkowska(J),Slomski(R),Jozwiak(S),Short(M… Genomics 1997-11-03

...TSC1 region on 9q34, determination of genomic structure, and identification of several coding region polymorphisms. The ...

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