Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans, +38

Science

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

Hope Northrup, Darcy A. Krueger, Hope Northrup, +81

Pediatric Neurology

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Darcy A. Krueger, Hope Northrup, Hope Northrup, +81

Pediatric Neurology

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Hope Northrup, Mary E. Aronow, E. Martina Bebin, +104

Pediatric Neurology

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Phillip T. Brook-Carter, Belén Peral, Christopher J. Ward, +7

Nature Genetics

Pkd1 GenesUrologyGenetic DisorderMedicineGenetics +10

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

Őzgür Sancak, Mark Nellist, Miriam Goedbloed, +6

European Journal of Human Genetics

Tuberous Sclerosis ComplexMolecular Diagnostic TechniquesDiagnostic Dna TechniquesGenetic DisorderMedicine +8

Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

Han C. Dan, Mei Sun, Lin Yang, +9

Journal of Biological Chemistry

Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma

Anna E. Koopmans, Robert M. Verdijk, Rutger W. W. Brouwer, +9

Modern Pathology

Uveal MelanomaPhotocarcinogenesisMelanomaPathologyBap1 Mutations +4

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex

Karin Boer, Floor E. Jansen, Mark Nellist, +7

Epilepsy Research

Tuberous Sclerosis ComplexNeuro-oncologyCortical TubersInflammatory ProcessesMedicine +5

Cognitive impairment in tuberous sclerosis complex is a multifactorial condition

Floor E. Jansen, Koen L. Vincken, Ale Algra, +9

Neurology