Tuberöse Sklerose 2

Liang N et al. (2014) Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.

Roberts PS et al. (2002) SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Brackley KJ et al. (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.

McMaster ML et al. (2011) Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.

Muzykewicz DA et al. (2009) TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

Chu-Shore CJ et al. (2009) Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.

Curatolo P et al. (2008) Tuberous sclerosis.

Jansen FE et al. (2008) Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

Lewis JC et al. (2004) Genotype and psychological phenotype in tuberous sclerosis.

Verhoef S et al. (1999) High rate of mosaicism in tuberous sclerosis complex.

Sancak O et al. (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Povey S et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

Dabora SL et al. (2002) Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Au KS et al. (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

Crino PB et al. (2006) The tuberous sclerosis complex.

Martin N et al. (2003) Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex.

Kumar A et al. (1995) A de novo frame-shift mutation in the tuberin gene.

None (1971) Mutation and cancer: statistical study of retinoblastoma.