Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
Top Cited Papers
- 1 January 2001
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 68 (1) , 64-80
- https://doi.org/10.1086/316951
Abstract
No abstract availableKeywords
This publication has 48 references indexed in Scilit:
- Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombinationJournal of Medical Genetics, 2000
- An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of ItoJournal of Medical Genetics, 2000
- Renal angiomyolipomata and learning difficulty in tuberous sclerosis complexJournal of Medical Genetics, 2000
- Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGEAnnals of Human Genetics, 1998
- Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetranceAnnals of Human Genetics, 1998
- A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patientsAnnals of Human Genetics, 1998
- Cortical Tuber Count: A Biomarker Indicating Neurologic Severity of Tuberous Sclerosis ComplexJournal of Child Neurology, 1997
- Cardiac tumours in tuberous sclerosis: Their incidence and courseEuropean Journal of Pediatrics, 1994
- Incidence of hepatic hamartomas in tuberous sclerosis.Archives of Disease in Childhood, 1992
- Genetic aspects of tuberous sclerosis in the west of Scotland.Journal of Medical Genetics, 1989