TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Severity of manifestations in tuberous sclerosis complex in relation to genotype

(2014) Sanjeev V. Kothare et al.   EPILEPSIA

Case Report Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

(2014) C.R. Mi et al.   GENETICS AND MOLECULAR RESEARCH

Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome

(2014) Nur Farrah Dila Ismail et al.   JAPANESE JOURNAL OF CLINICAL ONCOLOGY

Arachnoid cysts in tuberous sclerosis complex

(2013) Susana Boronat et al.   BRAIN & DEVELOPMENT

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

(2012) Agnies M. van Eeghen et al.   EPILEPSY RESEARCH

Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex

(2012) Furen Zhang et al.   Indian Journal of Dermatology Venereology & Leprology

Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

(2012) Mary E. Aronow et al.   OPHTHALMOLOGY

Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex

(2012) Mi-Ae Jang et al.   PEDIATRIC NEUROLOGY

Conservation of Structural and Functional Elements of TSC1 and TSC2: A Bioinformatic Comparison Across Animal Models

(2011) Jaco Serfontein et al.   BEHAVIOR GENETICS

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events

(2010) Wei Qin et al.   BRAIN PATHOLOGY

MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY

(2010) David W. Webb et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

(2010) M. Blyth et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Tuberous Sclerosis Complex Renal Disease

(2010) Bradley P. Dixon et al.   NEPHRON EXPERIMENTAL NEPHROLOGY

Focal cortical dysplasia: A genotype-phenotype analysis of polymorphisms and mutations in the TSC genes

(2009) Christoph Gumbinger et al.   EPILEPSIA

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

(2009) Cédric Le Caignec et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

(2009) D A Muzykewicz et al.   JOURNAL OF MEDICAL GENETICS