A de novo Alu insertion results in neurofibromatosis type 1

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

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

1990 • 1,471 citations

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

1990 • 1,107 citations

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

1990 • 1,085 citations

Neurofibromatosis, Phenotype, Natural History, and Pathogenesis

1992 • 789 citations

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1987 • 293 citations

Reconstruction and analysis of human alu genes

1991 • 288 citations

A human-specific subfamily of Alu sequences

1991 • 269 citations

Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

1990 • 204 citations

Sequence conservation in Alu evolution

1989 • 172 citations

A transpositionally and transcriptionally competent Alu subfamily.

1990 • 156 citations

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

1991 • 136 citations

Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.

1989 • 135 citations

Recently transposed Alu repeats result from multiple source genes

1990 • 133 citations

Amplification dynamics of human-specific (HS) alu family members

1991 • 124 citations

Integration site preferences of the Alu family and similar repetitive DNA sequences

1985 • 106 citations

Neurofibromatosis: Phenotype, Natural History and Pathogenesis

1987 • 98 citations

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

1988 • 96 citations

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA−SCID patients

1990 • 34 citations