Exon scanning of the entireTSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1993 • 1,617 citations

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

1997 • 1,613 citations

Epidemiology of Tuberous Sclerosis

1991 • 703 citations

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

1987 • 516 citations

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

1994 • 492 citations

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

1992 • 335 citations

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

1997 • 250 citations

PSYCHIATRIC DISORDER AMONG CHILDREN WITH TUBEROUS SCLEROSIS

1987 • 219 citations

Phenotypes of the Tuberous Sclerosis Complex with a Revision of Diagnostic Criteria

1991 • 207 citations

Neuropsychiatric Aspects of Tuberous Sclerosis

1991 • 161 citations

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

1997 • 147 citations

Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982

1985 • 118 citations

Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

1998 • 115 citations

Novel Mutations Detected in the TSC2 Hene From Both Sporadic and Familial TSC Patients

1996 • 82 citations

Evidence for genetic heterogeneity in tuberous sclerosis.

1989 • 80 citations

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

1991 • 74 citations

Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish

1996 • 70 citations

Alternative Splicing of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Mouse Tissues

1995 • 65 citations

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT)

1997 • 56 citations

Genetic heterogeneity in tuberous sclerosis

1990 • 53 citations

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

1992 • 48 citations

An index marker map of chromosome 9 provides strong evidence for positive interference.

1993 • 39 citations

A de novo frame-shift mutation in the tuberin gene

1995 • 36 citations

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16

1997 • 34 citations

Tuberous Sclerosis

1995 • 34 citations

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

1996 • 33 citations

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

1997 • 31 citations

Mutation analysis of the TSC2 gene in an African-American family

1995 • 28 citations

Cell trafficking and role of adhesion molecules in psoriasis

1995 • 23 citations

Expression and differential splicing of the mouse TSC2 homolog

1996 • 22 citations