Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
125 children with TS were studied.114 (91%) met clinical criteria for a definite diagnosis and the remaining 11 (9%) had pathogenic TSC1 or TSC2 mutations.
|
21813552 |
2011 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
6/8 (75%) patients with incomplete clinical manifestation of TS carried TSC1/2 gene lesion.
|
29476190 |
2018 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.
|
7849708 |
1994 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant multi-system disorder with two known disease loci on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2).
|
10732801 |
1998 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an autosomal dominant disorder which is genetically heterogeneous with two genes, TSC1 and TSC2.
|
10874311 |
2000 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TSC exhibits locus heterogeneity with genes at 9q34 (TSC1) and 16p13.3 (TSC2) that have 21 and 41 coding exons, respectively.
|
10942116 |
2000 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2.
|
11112665 |
2001 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TSC is associated with mutations in 2 genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively.
|
11444800 |
2001 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms.
|
11579436 |
2001 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2.75% of cases are sporadic.Most patients with TS have epilepsy.
|
11749114 |
2001 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations to the TSC1 and TSC2 tumour suppressor genes.
|
11781698 |
2001 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2.75% of cases are sporadic.Most patients with TS have epilepsy.
|
12185771 |
2002 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that occurs upon mutation of either the TSC1 or TSC2 genes, which encode the protein products hamartin and tuberin, respectively.
|
12271141 |
2002 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is characterized by the formation of hamartomas in multiple organs resulting from mutations in the TSC1 or TSC2 gene.
|
12511557 |
2003 |
Tuberous Sclerosis
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Tuberous Sclerosis Complex (TSC) is a genetic disorder that occurs through the loss of heterozygosity of either TSC1 or TSC2, which encode Hamartin or Tuberin, respectively.
|
12906785 |
2003 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome due to mutations in either TSC1 or TSC2.
|
14641237 |
2003 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either TSC1 or TSC2 tumor suppressor gene.
|
15175323 |
2004 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is caused by point mutations in the TSC1 or TSC2 genes on chromosomes 9q33-34 or 16p13, respectively.
|
15178220 |
2004 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disease caused by a mutation in either the tsc1 or tsc2 tumor suppressor gene.
|
15340059 |
2004 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either of the two tumor suppressor genes TSC1 or TSC2, which encode hamartin and tuberin, respectively.
|
15342917 |
2004 |
Tuberous Sclerosis
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or the TSC2 genes and characterized by the development of benign hamartomatous growths in multiple organ systems.
|
15888477 |
2005 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or the TSC2 genes and characterized by the development of benign hamartomatous growths in multiple organ systems.
|
15888477 |
2005 |
Tuberous Sclerosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an autosomal dominant disease, caused by mutations in TSC1 or TSC2 genes, encoding hamartin and tuberin, respectively.
|
16136513 |
2005 |