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High rate of mosaicism in tuberous sclerosis complex.

Verhoef(S),Bakker(L),Tempelaars(A M),Hesseli… Am J Hum Genet 1999-06-24

...TSC1 or TSC2. In five families, somatic mosaicism was present in a mildly affected parent of an index patient. In one fa...

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

...TSC1, and TSC2. The samples consisted of 103 unique sequence heterozygotes and 126 wild-type homozygous controls.,At the...

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 ...

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

...TSC1) and 16p13.3 (TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding...

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

...TSC1, TSC2, and VHL genes.,Three patients (ages 7, 8, and 20 years) had renal cell carcinomas (RCCs). Two of these patie...

Tuberous sclerosis-related gene expression in normal and dysplastic brain.

Vinters(H V),Kerfoot(C),Catania(M),Emelin(J … Epilepsy Res 1998-12-29

...TSC1 (on 9q34) encodes hamartin. Tuberin has been immunolocalized to neurons and possibly astrocytes in normal brain and...

The genetic basis of tuberous sclerosis.

Young(J),Povey(S) Mol Med Today 1998-12-10

...TSC1, only recently identified. Here we review the current state of knowledge of the molecular genetics of tuberous scle...

[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...

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...

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patient…

Au(K S),Rodriguez(J A),Finch(J L),Volcik(K A… Am J Hum Genet 1998-04-06

...TSC1 and TSC2), the large size of the TSC2 gene, and the variety of mutations. More than half of the mutations that we i...

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