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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals …

Peral(B),San Millán(J L),Ong(A C),Gamble(V),… Am J Hum Genet 1996-02-21

...TSC2 contiguous-gene syndrome, and the likely mutational mechanism in PKD1 is considered.

Autosomal dominant polycystic kidney disease: molecular analysis.

Harris(P C),Ward(C J),Peral(B),Hughes(J) Hum Mol Genet 1996-02-13

...TSC2 gene, which have severe infantile polycystic kidney disease, have also been characterised. The full length transcri...

Phenotypic variation of tuberous sclerosis in a single extended kindred.

Smalley(S L),Burger(F),Smith(M) J Med Genet 1995-02-24

...TSC2 gene may present phenotypically as mild skin signs and significant behavioural problems.

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a grow…

Carbonara(C),Longa(L),Grosso(E),Borrone(C),G… Hum Mol Genet 1995-03-16

...TSC2 on chromosome 16p13.3. Loss of heterozygosity at 16p13.3-associated markers has been recently observed in hamartoma...

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.

Green(A J),Johnson(P H),Yates(J R) Hum Mol Genet 1995-03-16

...TSC2). Germline deletions in the TSC2 gene have been shown in 5% of patients with tuberous sclerosis (TSC). These data s...

The molecular genetics of tuberous sclerosis.

Sampson(J R),Harris(P C) Hum Mol Genet 1995-03-16

...TSC2. Intriguingly, the TSC2 product, tuberin, has an area of sequence homology with the GTPase activating protein rap1G...

Early detection of Knudson's two-hits in preneoplastic renal cells of the Eker …

Kubo(Y),Klimek(F),Kikuchi(Y),Bannasch(P),Hin… Cancer Res 1995-03-30

...Tsc2) gene is localized, was found in the renal cell carcinomas which developed from hybrid F1 rats carrying the Eker mu...

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic…

Brook-Carter(P T),Peral(B),Ward(C J),Thompso… Nat Genet 1995-04-26

Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2...

cDNA structure, alternative splicing and exon-intron organization of the predis…

Kobayashi(T),Nishizawa(M),Hirayama(Y),Kobaya… Nucleic Acids Res 1995-09-27

...Tsc2 product. The present determination of the Tsc2 gene and establishment of strong conservation between the rat and ma...

Clinical, neuropathological and genetic aspects of the tuberous sclerosis compl…

Short(M P),Richardson(E P),Haines(J L),Kwiat… Brain Pathol 1995-10-19

...TSC2, has been cloned, although its function remains speculative. The identification of the TSC1 gene on chromosome 9q, ...

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