Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

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

1994 • 5,994 citations

Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21

1990 • 2,505 citations

Hypervariability of simple sequences as a general source for polymorphic DNA markers

1989 • 2,356 citations

Localization of a Breast Cancer Susceptibility Gene, BRCA2 , to Chromosome 13q12-13

1994 • 1,884 citations

Risks of cancer in BRCA1-mutation carriers

1994 • 1,865 citations

Frameshift Mutations and the Genetic Code

1966 • 1,400 citations

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.

1993 • 1,269 citations

BRCA1 Mutations in Primary Breast and Ovarian Carcinomas

1994 • 1,205 citations

Slippage synthesis of simple sequence DNA

1992 • 1,091 citations

Genetic analysis of breast cancer in the cancer and steroid hormone study.

1991 • 915 citations

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

1985 • 818 citations

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

1993 • 664 citations

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

1994 • 626 citations

Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression

1995 • 585 citations

Familial breast-ovarian cancer locus on chromosome 17q12-q23

1991 • 513 citations

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

1988 • 510 citations

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon.

1991 • 487 citations

mRNA surveillance by the Caenorhabditis elegans smg genes.

1993 • 459 citations

Interference of nonsense mutations with eukaryotic messenger RNA stability.

1979 • 454 citations

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

1994 • 389 citations

Somatic mutations in the BRCA1 gene in sporadic ovarian tumours

1995 • 377 citations

Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families

1994 • 334 citations

Identification and preliminary characterization of a protein motif related to the zinc finger.

1993 • 327 citations

RISK FACTORS FOR BREAST CANCER

1983 • 323 citations

The epidemiology of breast cancer

1991 • 322 citations

Rapid detection of BRCA1 mutations by the protein truncation test

1995 • 317 citations

Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon.

1995 • 279 citations

Inherited Breast and Ovarian Cancer

1993 • 234 citations

Mutation analysis of the BRCA1 gene in ovarian cancers.

1995 • 199 citations

Detection and Characterization of a 3′ Untranslated Region Ribonucleoprotein Complex Associated with Human α-Globin mRNA Stability

1995 • 194 citations

Frontometaphyseal dysplasia: Neonatal radiographic diagnosis

1995 • 193 citations

Frameshift mutagenesis by eucaryotic DNA polymerases in vitro.

1986 • 177 citations

Mutations in the RB1 gene and their effects on transcription.

1989 • 155 citations

Inherited susceptibility to breast cancer.

1993 • 148 citations

Nonsense Codons in Human β-Globin mRNA Result in the Production of mRNA Degradation Products

1992 • 118 citations

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

1994 • 111 citations

p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers.

1995 • 108 citations

Enhanced stability of interleukin-2 mRNA in MLA 144 cells. Possible role of cytoplasmic AU-rich sequence-binding proteins.

1994 • 95 citations

THRA1 and D17S183 flank an interval of < 4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21.

1993 • 88 citations

Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods.

1994 • 87 citations

High-Density Genetic Map of the BRCA1 Region of Chromosome 17q12-q21

1993 • 84 citations

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

1993 • 58 citations

A novel transforming growth factor-β₁responsive cytoplasmic frans-acting factor binds selectively to the 3′-untranslated region of mammalian ribonucleotide reductase R2 mRNA: role in message stability

1993 • 51 citations

22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors

1995 • 48 citations

5′ untranslated sequences modulate rapid mRNA degradation mediated by 3′ AU-rich element in v-/c-fosrecombinants

1992 • 44 citations

Mutations in the RB1 Gene and Their Effects on Transcription

1989 • 44 citations

Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred

1987 • 44 citations

Genetic heterogeneity and localization of a familial breast-ovarian cancer gene on chromosome 17q12-q21.

1993 • 42 citations

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.

1994 • 35 citations