Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.

Mechanisms underlying losses of heterozygosity in human colorectal cancers. Proc Natl Acad Sci U S A (2001) 1.68

X rays induce interallelic homologous recombination at the human thymidine kinase gene. Mol Cell Biol (1992) 1.02

Different capacities for recombination in closely related human lymphoblastoid cell lines with different mutational responses to X-irradiation. Mol Cell Biol (1994) 0.99

Clonal analysis of delayed karyotypic abnormalities and gene mutations in radiation-induced genetic instability. Mol Cell Biol (1996) 0.89

Carcinogen-induced loss of heterozygosity at the Aprt locus in somatic cells of the mouse. Proc Natl Acad Sci U S A (1998) 0.88

Mutant spectra of irradiated CHO AL cells determined with multiple markers analyzed by flow cytometry. Mutat Res (2007) 0.82

Evaluating biomarkers to model cancer risk post cosmic ray exposure. Life Sci Space Res (Amst) (2016) 0.75

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature (1986) 13.96

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (1983) 11.57

Significance of the relationship between lung recoil and maximum expiratory flow. J Appl Physiol (1967) 5.87

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86

Induction of sister chromatid exchanges by extremely low doses of alpha-particles. Cancer Res (1992) 4.72

Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. Proc Natl Acad Sci U S A (1990) 4.06

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet (1992) 3.51

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet (1993) 3.49

Point mutational inactivation of the retinoblastoma antioncogene. Science (1989) 3.37

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron (1992) 3.25

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A (1998) 3.22

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet (1984) 3.17

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med (1989) 3.03

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature (1991) 3.00

Intercellular communication is involved in the bystander regulation of gene expression in human cells exposed to very low fluences of alpha particles. Radiat Res (1998) 2.92

Direct evidence for the participation of gap junction-mediated intercellular communication in the transmission of damage signals from alpha -particle irradiated to nonirradiated cells. Proc Natl Acad Sci U S A (2001) 2.74

Unexpected sensitivity to the induction of mutations by very low doses of alpha-particle radiation: evidence for a bystander effect. Radiat Res (1999) 2.70

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet (1989) 2.68

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet (2000) 2.66

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. N Engl J Med (1992) 2.59

Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med (1984) 2.49

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet (1991) 2.45

Repair of potentially lethal radiation damage in vitro and in vivo. Radiology (1973) 2.43

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.41

The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics (1991) 2.39

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A (1996) 2.36

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc Natl Acad Sci U S A (1986) 2.30

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol (1991) 2.26

Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. Proc Natl Acad Sci U S A (1989) 2.25

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet (1997) 2.19

Ku70: a candidate tumor suppressor gene for murine T cell lymphoma. Mol Cell (1998) 2.18

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature (1991) 2.12

Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene (1989) 2.09

Relationship between x-ray exposure and malignant transformation in C3H 10T1/2 cells. Proc Natl Acad Sci U S A (1980) 2.08

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet (1999) 2.04

Plateau-phase cultures of mammalian cells: an in vitro model for human cancer. Curr Top Radiat Res Q (1972) 2.02

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00

Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci U S A (1998) 1.90

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet (1993) 1.86

Oncogenes and tumor-suppressing genes. N Engl J Med (1988) 1.84

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet (1999) 1.81

Human genetics. Deficiencies in sight with the candidate gene approach. Nature (1990) 1.77

X-radiation-induced transformation in a C3H mouse embryo-derived cell line. Cancer Res (1976) 1.72

Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature (1983) 1.71

Lung cancer induced in hamsters by low doses of alpha radiation from polonium-210. Science (1975) 1.71

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol (1991) 1.64

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A (1989) 1.61

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet (1995) 1.61

Mutation spectrum of the p53 gene in bone and soft tissue sarcomas. Cancer Res (1992) 1.60

Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes. Ophthalmology (1999) 1.57

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet (1997) 1.55

Timing of the steps in transformation of C3H 10T 1/2 cells by X-irradiation. Nature (1984) 1.54

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet (1998) 1.54

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci U S A (1995) 1.52

The bystander effect in radiation oncogenesis: II. A quantitative model. Radiat Res (2001) 1.52

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci (2000) 1.41

X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res (1980) 1.40

Lacrimal gland tumors: a clinicopathological analysis of 160 cases. Int Ophthalmol Clin (1982) 1.39

Potential role of WAF1/Cip1/p21 as a mediator of TGF-beta cytoinhibitory effect. J Biol Chem (1995) 1.38

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Hum Mutat (2001) 1.37

In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Invest Ophthalmol Vis Sci (1994) 1.36

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci (2001) 1.34

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet (1997) 1.34

Protease inhibitors suppress radiation-induced malignant transformation in vitro. Nature (1979) 1.33

Repair of sub-lethal and potentially lethal radiation damage in plateau phase cultures of human cells. Nature (1969) 1.33

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res (2000) 1.31

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. Proc Natl Acad Sci U S A (1999) 1.31

Chromosome 13 restriction fragment length polymorphisms. Hum Genet (1984) 1.30

Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations. Somat Cell Mol Genet (1986) 1.30

Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. Am J Hum Genet (1986) 1.30

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics (1994) 1.27

Deficient recovery from potentially lethal radiation damage in ataxia telengiectasia and xeroderma pigmentosum. Nature (1978) 1.27

Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics (1993) 1.25

Limited penetration of methotrexate into human osteosarcoma spheroids as a proposed model for solid tumor resistance to adjuvant chemotherapy. Cancer Res (1980) 1.22

Skin fibroblasts from a D-deletion type retinoblastoma patient are abnormally X-ray sensitive. Nature (1977) 1.21

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci (2001) 1.21

Deficient DNA repair in human progeroid cells. Proc Natl Acad Sci U S A (1973) 1.20

Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (1995) 1.20

Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol (1999) 1.17

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol (2001) 1.16

Mechanisms of human cell neoplastic transformation: X-ray-induced abnormal clone formation in long-term cultures of human diploid fibroblasts. Cancer Res (1985) 1.14

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet (2005) 1.14

Increased ultraviolet sensitivity and chromosomal instability related to P53 function in the xeroderma pigmentosum variant. Cancer Res (1999) 1.14

Increased bystander mutagenic effect in DNA double-strand break repair-deficient mammalian cells. Int J Radiat Biol (2003) 1.13

Radiosensitivity in vitro of human soft tissue sarcoma cell lines and skin fibroblasts derived from the same patients. Int J Radiat Biol (1993) 1.13

Enhancement of X-ray transformation by 12-O-tetradecanoyl-phorbol-13-acetate in a cloned line of C3H mouse embryo cells. Cancer Res (1978) 1.12

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci (1999) 1.11

Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization. Hum Genet (1985) 1.11

Cell transformation by chemical agents--a review and analysis of the literature. A report of the U.S. Environmental Protection Agency Gene-Tox Program. Mutat Res (1983) 1.11

Persistently elevated frequency of spontaneous mutations in progeny of CHO clones surviving X-irradiation: association with delayed reproductive death phenotype. Mutat Res (1992) 1.11

Regulation by ionizing radiation of CDC2, cyclin A, cyclin B, thymidine kinase, topoisomerase IIalpha, and RAD51 expression in normal human diploid fibroblasts is dependent on p53/p21Waf1. Cell Growth Differ (1998) 1.11

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat Genet (1999) 1.11

High and low fluences of alpha-particles induce a G1 checkpoint in human diploid fibroblasts. Cancer Res (2000) 1.10

Stress signaling from irradiated to non-irradiated cells. Curr Cancer Drug Targets (2004) 1.10

Induction of oncogenic transformation in vitro by ultraviolet light. Nature (1976) 1.09

Distribution of polonium-210 in pulmonary tissues of cigarette smokers. N Engl J Med (1965) 1.08

DNA crosslinking induced by x-rays and chemical agents. Biochim Biophys Acta (1977) 1.08

X-ray sensitivity of human tumor cells in vitro. Int J Radiat Oncol Biol Phys (1980) 1.07