New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

1994 • 5,994 citations

Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.

1995 • 1,602 citations

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

1995 • 497 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

Tiggers and DNA transposon fossils in the human genome.

1996 • 421 citations

Rapid detection of BRCA1 mutations by the protein truncation test

1995 • 317 citations

Mutations and Polymorphisms in the familial early-onset breast cancer (BRCA1) gene

1996 • 288 citations

Structural intermediates of deletion mutagenesis: a role for palindromic DNA.

1984 • 251 citations

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1987 • 201 citations

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.

1997 • 177 citations

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

1997 • 146 citations

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1991 • 143 citations

A deletion hot spot in the Duchenne muscular dystrophy gene

1988 • 114 citations

Site-selected transposon mutagenesis at the hcf106 locus in maize.

1995 • 95 citations

P-element-induced interallelic gene conversion of insertions and deletions in Drosophila melanogaster.

1993 • 71 citations

A Novel Mechanism Generating Short Deletion/Insertions Following Slippage is Suggested by a Mutation in the Human α2-Globin Gene

1997 • 39 citations

Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.

1996 • 39 citations

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

1990 • 37 citations

Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration.

1995 • 29 citations

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema

1994 • 28 citations

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

1994 • 24 citations

A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease

1995 • 21 citations

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

1990 • 19 citations

An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene

1997 • 6 citations