Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

Mutation and Cancer: Statistical Study of Retinoblastoma

1971 • 7,335 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

rab5 controls early endosome fusion in vitro

1991 • 1,090 citations

Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

1998 • 1,085 citations

Rap1 mediates sustained MAP kinase activation induced by nerve growth factor

1998 • 868 citations

Epidemiology of Tuberous Sclerosis

1991 • 703 citations

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1998 • 566 citations

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

1994 • 492 citations

Identification of Tuberin, the Tuberous Sclerosis-2 Product. TUBERIN POSSESSES SPECIFIC Rap1GAP ACTIVITY

1995 • 361 citations

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

1997 • 356 citations

The Tuberous Sclerosis 2 Gene Product, Tuberin, Functions as a Rab5 GTPase Activating Protein (GAP) in Modulating Endocytosis

1997 • 353 citations

Human gene mutation

1993 • 316 citations

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

1996 • 312 citations

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis

1998 • 307 citations

Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

1994 • 264 citations

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

1997 • 250 citations

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.

1998 • 247 citations

Genetic aspects of tuberous sclerosis in the west of Scotland.

1989 • 222 citations

Role of the Tuberous Sclerosis Gene-2 Product in Cell Cycle Control

1997 • 195 citations

Loss of heterozygosity in tuberous sclerosis hamartomas.

1996 • 163 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

Mitogenic and oncogenic properties of the small G protein Rap1b

1998 • 140 citations

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

1999 • 132 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

Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene

1997 • 75 citations

A role of the tuberous sclerosis gene-2 product during neuronal differentiation

1998 • 72 citations

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

1996 • 70 citations

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

1998 • 69 citations

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease

1997 • 69 citations

Tuberous sclerosis: The incidence of sporadic cases versus familial cases

1980 • 68 citations

Update on nomenclature for human gene mutations

1996 • 59 citations

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

1997 • 56 citations

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

1998 • 54 citations

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

1998 • 50 citations

A de novo frame-shift mutation in the tuberin gene

1995 • 36 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

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

1998 • 32 citations

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

1992 • 31 citations

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

1995 • 28 citations

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

1998 • 26 citations

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

1998 • 16 citations

A novel splice site mutation (156 + 1G→A) in theTSC2 gene

1997 • 10 citations

Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.

1997 • 7 citations

Deletion of 11 Amino Acids in Tuberin Associated with Severe Tuberous Sclerosis Phenotypes: Evidence for a New Essential Domain in the First Third of the Protein

1997 • 5 citations

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients

1998 • 4 citations