Oncogenic Point Mutations in the Human Retinoblastoma Gene: Their Application to Genetic Counseling

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Mutation and Cancer: Statistical Study of Retinoblastoma

1971 • 7,335 citations

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1987 • 5,745 citations

Organization and Expression of Eucaryotic Split Genes Coding for Proteins

1981 • 4,730 citations

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

1986 • 2,968 citations

Association between an oncogene and an anti-oncogene: the adenovirus E1A proteins bind to the retinoblastoma gene product

1988 • 1,440 citations

Human Retinoblastoma Susceptibility Gene: Cloning, Identification, and Sequence

1987 • 1,436 citations

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1987 • 944 citations

DNA Repair Enzymes

1982 • 905 citations

Abnormalities in Structure and Expression of the Human Retinoblastoma Gene in SCLC

1988 • 905 citations

Suppression of the Neoplastic Phenotype by Replacement of the RB Gene in Human Cancer Cells

1988 • 832 citations

Structural Evidence for the Authenticity of the Human Retinoblastoma Gene

1987 • 809 citations

The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity

1987 • 649 citations

Inactivation of the Retinoblastoma Susceptibility Gene in Human Breast Cancers

1988 • 608 citations

Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA Duplexes

1985 • 538 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

SV40 large T antigen binds preferentially to an underphosphorylated member of the retinoblastoma susceptibility gene product family

1989 • 508 citations

Genetics of retinoblastoma

1979 • 444 citations

Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein.

1987 • 432 citations

Point Mutational Inactivation of the Retinoblastoma Antioncogene

1989 • 427 citations

Structural Rearrangement of the Retinoblastoma Gene in Human Breast Carcinoma

1988 • 423 citations

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition.

1985 • 415 citations

The electroencephalogram (EEG) as a research tool in human behavior genetics: Psychological examinations in healthy males with various inherited EEG variants

1979 • 378 citations

Spontaneous Mutation in Man

1975 • 346 citations

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1989 • 286 citations

DNA Diagnostics—Molecular Techniques and Automation

1988 • 286 citations

Identification of Germline and Somatic Mutations Affecting the Retinoblastoma Gene

1988 • 270 citations

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

1988 • 249 citations

Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene

1988 • 242 citations

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

1986 • 240 citations

Parental origin of mutations of the retinoblastoma gene

1989 • 216 citations

Structure of the human retinoblastoma gene.

1989 • 193 citations

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1987 • 192 citations

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.

1989 • 166 citations

Structure and partial genomic sequence of the human retinoblastoma susceptibility gene

1989 • 139 citations

Some retinoblastomas, osteosarcomas, and soft tissue sarcomas may share a common etiology.

1988 • 137 citations

Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants.

1988 • 126 citations

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

1989 • 117 citations

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

1988 • 114 citations

Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.

1986 • 106 citations

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

1988 • 83 citations

Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients

1988 • 78 citations

Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors.

1988 • 74 citations

The molecular basis of hemophilia A in man

1988 • 68 citations

Recurrence risks for germinal mosaics.

1971 • 49 citations

The Isthmian Odes - G. Aurelio Privitera: Pindaro: Le Istmiche. (Scrittori Greci e Latini.) Pp. xlvii + 256. Milan: Fondazione Lorenzo Valla (Arnoldo Mondadori editore), 1982. L. 18,000.

1986 • 9 citations