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

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

1989 • 7,327 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

1992 • 2,719 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

2013 • 2,504 citations

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

1989 • 2,011 citations

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

1992 • 1,609 citations

Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

1990 • 1,471 citations

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

1992 • 1,437 citations

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

1990 • 1,107 citations

Causes of Death in Patients With Tuberous Sclerosis

1991 • 544 citations

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

1987 • 516 citations

Estimating the power of a proposed linkage study for a complex genetic trait.

1989 • 236 citations

Construction of a GT polymorphism map of human 9q

1992 • 171 citations

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

1985 • 118 citations

Diagnostic and genetical aspects of tuberous sclerosis.

1968 • 107 citations

Mapping of a gene determining tuberous sclerosis to human chromosome 11q1411q23

1990 • 105 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

A mapped set of genetic markers for human chromosome 9

1988 • 65 citations

Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.

1987 • 65 citations

Genetic heterogeneity in tuberous sclerosis

1990 • 53 citations

A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus

1991 • 52 citations

Non-penetrance in tuberous sclerosis.

1991 • 46 citations

Family studies in tuberous sclerosis. evaluation of apparently unaffected parents.

1983 • 37 citations

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

1991 • 35 citations

Detection of tuberous sclerosis in parents by magnetic resonance imaging

1991 • 35 citations

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

1991 • 34 citations

Dinucleotide repeat polymorphism at the GSN locus (9q32-34)

1991 • 27 citations

Linkage Studies in Tuberous Sclerosis

1991 • 27 citations

Absence of linkage of ABO blood group locus to familial tuberous sclerosis

1989 • 26 citations

Dinucleotide repeat polymorphism at the ABL locus (9q34)

1991 • 22 citations

Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis

1988 • 19 citations