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

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1987 • 5,139 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1993 • 1,617 citations

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1990 • 1,107 citations

Current Protocols in Human Genetics

2001 • 1,023 citations

Epidemiology of Tuberous Sclerosis

1991 • 703 citations

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

1987 • 516 citations

Current protocols in human genetics

1995 • 498 citations

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

1994 • 492 citations

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

1994 • 362 citations

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

1992 • 335 citations

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

1991 • 207 citations

Tuberous Sclerosis

1994 • 106 citations

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1989 • 89 citations

Evidence for genetic heterogeneity in tuberous sclerosis.

1989 • 80 citations

Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene

1994 • 74 citations

Cardiac Rhabdomyomas in Tuberous Sclerosis

1991 • 66 citations

Phenotypic variation of tuberous sclerosis in a single extended kindred.

1994 • 49 citations

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

1992 • 48 citations

A de novo frame-shift mutation in the tuberin gene

1995 • 36 citations

Enamel defects associated with tuberous sclerosis

1975 • 35 citations

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

1994 • 35 citations

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1995 • 35 citations

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset^a

1991 • 34 citations

An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two‐Point Methods^a

1991 • 19 citations

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1994 • 10 citations