Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
Authors:
- Kit Sing AuKAKit Sing Au
- Steven P. SparaganaSSSteven P. Sparagana
- James E. BaumgartnerJBJames E. Baumgartner
Top Cited Papers
- 1 February 2007
- journal article
- research article
- Published by Elsevier in Genetics in Medicine
- Vol. 9 (2) , 88-100
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Diagnosis of Tuberous Sclerosis ComplexJournal of Child Neurology, 2004
- Genotype and psychological phenotype in tuberous sclerosisJournal of Medical Genetics, 2004
- Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple OrgansThe American Journal of Human Genetics, 2001
- Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisHuman Mutation, 1999
- Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous SclerosisThe American Journal of Human Genetics, 1999
- Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic CriteriaJournal of Child Neurology, 1998
- Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous SclerosisHuman Molecular Genetics, 1997
- Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34Science, 1997
- Alternative Splicing of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Mouse TissuesGenomics, 1995
- Identification and characterization of the tuberous sclerosis gene on chromosome 16Cell, 1993