|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
|
29221145 |
2017 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb.
|
27425891 |
2016 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
|
27494029 |
2016 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.
|
26231267 |
2015 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.
|
26231267 |
2015 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.
|
24633152 |
2014 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.
|
24633152 |
2014 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.
|
22707517 |
2012 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
|
20547222 |
2010 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
|
20547222 |
2010 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
|
18830229 |
2009 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
|
16114042 |
2005 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
|
10227394 |
1999 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
|
10533067 |
1999 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
|
10363127 |
1998 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
|
Tuberous Sclerosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
|
FOCAL CORTICAL DYSPLASIA OF TAYLOR
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Lymphangioleiomyomatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|