Published in Humangenetik on January 01, 1974
Genetic control of chromosome breakage and rejoining in Drosophila melanogaster: spontaneous chromosome aberrations in X-linked mutants defective in DNA metabolism. Proc Natl Acad Sci U S A (1979) 1.42
Relationships among chromatid interchanges, sister chromatid exchanges, and meiotic recombination in Drosophila melanogaster. Proc Natl Acad Sci U S A (1980) 1.32
Region-specific effects on chromosome integrity of mutations at essential loci in Drosophila melanogaster. Proc Natl Acad Sci U S A (1982) 1.15
Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest (1975) 1.06
Mutation of the murine Bloom's syndrome gene produces global genome destabilization. Mol Cell Biol (2006) 1.01
Inhibition of carcinogen-induced chromosomal aberrations by an anticarcinogenic protease inhibitor. Proc Natl Acad Sci U S A (1980) 0.97
Telomere replication: poised but puzzling. J Cell Mol Med (2011) 0.82
Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype. Am J Med Genet A (2005) 0.82
Human DNA repair defects. J Inherit Metab Dis (1986) 0.79
Irreversible repression of DNA synthesis in Fanconi anemia cells is alleviated by the product of a novel cyclin-related gene. Mol Cell Biol (1995) 0.79
Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM. Cytogenet Genome Res (2015) 0.77
Induction of multiple independent T-cell lymphomas in rats inoculated with MOloney murine leukemia virus. Proc Natl Acad Sci U S A (1989) 0.77
Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process. Theor Biol Med Model (2015) 0.76
MicroRNA-34a promotes genomic instability by a broad suppression of genome maintenance mechanisms downstream of the oncogene KSHV-vGPCR. Oncotarget (2016) 0.75
Endocrine abnormalities and myopathy in Bloom's syndrome. J Med Genet (1977) 0.75
The Bloom's syndrome gene product is homologous to RecQ helicases. Cell (1995) 9.91
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci U S A (1974) 6.51
Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA. Proc Natl Acad Sci U S A (1969) 3.97
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet (1969) 2.87
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci U S A (1989) 2.22
A retarded rate of DNA chain growth in Bloom's syndrome. Proc Natl Acad Sci U S A (1975) 2.06
[Spontaneous chromosome aberrations in familial panmyelopathy]. Humangenetik (1964) 1.98
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma (1974) 1.82
Genetically determined sex-reversal in 46,XY humans. Science (1978) 1.76
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am J Hum Genet (1977) 1.67
Molecular evidence that homologous recombination occurs in proliferating human somatic cells. Proc Natl Acad Sci U S A (1990) 1.65
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. Hum Genet (1985) 1.61
An abnormal profile of DNA replication intermediates in Bloom's syndrome. Cancer Res (1990) 1.54
Altered DNA ligase I activity in Bloom's syndrome cells. Nature (1987) 1.54
The Roberts syndrome. Clin Genet (1974) 1.45
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet (1995) 1.35
Bloom's syndrome: evidence for an increased mutation frequency in vivo. Science (1983) 1.34
Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth. Ann Intern Med (1966) 1.33
Molecular genetics of Bloom's syndrome. Hum Mol Genet (1996) 1.33
Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum Genet (1979) 1.29
Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2. Science (1973) 1.27
Clinical experience with the Kim-Ray Greenfield vena caval filter. Ann Surg (1977) 1.24
A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig Artic Ser (1975) 1.22
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab (1998) 1.19
Unilateral agenesis of the diaphragm. Humangenetik (1968) 1.18
Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. Proc Natl Acad Sci U S A (1999) 1.16
Formal genetics of Fanconi's anemia. Hum Genet (1976) 1.15
Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. Clin Genet (1979) 1.14
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. Am J Hum Genet (1994) 1.12
Chromosomal effects of mitomycin, a potential recombinogen in mammalian cell genetics. Tex Rep Biol Med (1969) 1.12
Mongolism, delayed fertilization and human sexual behaviour. Nature (1968) 1.09
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet (1998) 1.06
Genes which increase chromosomal instability in somatic cells and predispose to cancer. Prog Med Genet (1972) 1.06
Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest (1975) 1.06
BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. Cytogenet Cell Genet (2000) 1.05
Trimethadione and human teratogenesis. Teratology (1970) 1.04
A test for Fanconi's anemia. Blood (1987) 1.04
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am J Hum Genet (1977) 1.03
Bloom's syndrome. V. Surveillance for cancer in affected families. Clin Genet (1977) 1.02
[Ethical conflicts in genetic counselling during pregnancies (author's transl)]. Monatsschr Kinderheilkd (1982) 1.01
Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease. Blood (1971) 1.01
Frequency of variant erythrocytes at the glycophorin-A locus in two Bloom's syndrome patients. Mutat Res (1989) 1.01
In vitro labelling of human meiotic chromosomes with H3-thymidine. Hereditas (1968) 0.99
Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects. Hum Genet (1981) 0.99
Testicular feminisation and inguinal hernia. Lancet (1973) 0.98
Familial congenital heart disease. II. Chromosomal studies. Circulation (1966) 0.98
Bloom's syndrome. VII. Progress report for 1978. Clin Genet (1979) 0.98
Chromosome aberrations and unscheduled DNA synthesis in X- and UV-irradiated lymphocytes from a boy with Bloom's syndrome and a man with xeroderma pigmentosum. Cytogenet Cell Genet (1978) 0.97
Bloom's syndrome and EM9 cells in BrdU-containing medium exhibit similarly elevated frequencies of sister chromatid exchange but dissimilar amounts of cellular proliferation and chromosome disruption. Chromosoma (1984) 0.97
Embryonic stress hypothesis of teratogenesis. Am J Med (1984) 0.96
Werner's syndrome: proliferation in vitro of clones of cells bearing chromosome translocations. Am J Hum Genet (1984) 0.96
Different mutations are responsible for the elevated sister-chromatid exchange frequencies characteristic of Bloom's syndrome and hamster EM9 cells. Proc Natl Acad Sci U S A (1987) 0.96
Bloom's syndrome XI. Progress report for 1983. Clin Genet (1984) 0.96
Pseudovaginal perineoscrotal hypospadias. Clin Genet (1972) 0.96
[Autoradiographic studies of human chromosomes. VII. 5 cases of familial t(DqDq)]. Ann Genet (1970) 0.95
Bloom's syndrome. XVIII. Hypermutability at a tandem-repeat locus. Hum Genet (1992) 0.94
Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome No. 1. Science (1974) 0.94
Long-term study of the immunodeficiency of Bloom's syndrome. Acta Paediatr (1992) 0.93
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. Hum Genet (2001) 0.93
MN blood-group locus: data concerning the possible chromosomal location. Science (1968) 0.92
Bloom's syndrome: DNA replication in cultured fibroblasts and lymphocytes. Hum Genet (1977) 0.92
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. Am J Hum Genet (1999) 0.92
Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nat Genet (1994) 0.90
Abnormalities of human sex chromosomes. I. A ring Y without mosaiciam. Ann Genet (1973) 0.89
Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation. Birth Defects Orig Artic Ser (1975) 0.88
Possible teratogenicity of trimethadione and paramethadione. Lancet (1970) 0.88
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Genomics (1996) 0.87
Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Genet (1966) 0.86
Approaches to meeting health needs of large poverty populations. Am J Public Health Nations Health (1967) 0.86
Clinical and cytogenetic observations during a six-year period in an adult with Fanconi's anaemia. Blut (1977) 0.86
[Duplication of an X chromosome in a case of Turner's syndrome (45,X-46,XXp+)]. Ann Genet (1970) 0.86
Familial predisposition to cancer and age at onset of disease in randomly selected cancer patients. Am J Hum Genet (1983) 0.86
The internal order of the interphase nucleus. Humangenetik (1974) 0.86
The human Y chromosome homologue of XG: transcription of a naturally truncated gene. Hum Mol Genet (1995) 0.85
The cis AB phenotype in three generations of one family: serological, enzymatic and cytogenetic studies. J Immunogenet (1978) 0.85
Roberts's syndrome. II. Aberrant Y-chromosome behavior. Clin Genet (1981) 0.85
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. Hum Mutat (1998) 0.84
[Cytogenetic and cytologic findings in enzymopenic panmyelopathies and pancytopenias. Familial myelopathy of Fanconi, glutathione-reductase deficiency anemia and megaloblastic B12 deficiency anemia]. Humangenetik (1966) 0.84
[Genetic amniocentesis: technique and results in 1,000 first trimester amniocenteses (author's transl)]. Geburtshilfe Frauenheilkd (1980) 0.84
Confirmation of 15q26.1 as the site of the FES protooncogene by fluorescence in situ hybridization. Cytogenet Cell Genet (1993) 0.83
The Aarskog-Scott syndrome in four brothers. Birth Defects Orig Artic Ser (1975) 0.83
Fanconi's anemia: terminal leukemia and "Forme fruste" in one family. Clin Genet (1979) 0.83
Genetically determined chromosome instability syndromes. Cytogenet Cell Genet (1982) 0.83
Autoradiographic studies of human chromosomes. 4. Comparison of the end-of-S patterns in lymphocytes and amniotic epithelial cells. Chromosoma (1971) 0.83
Males with a uterus and fallopian tubes, a rare disorder of sexual development. Birth Defects Orig Artic Ser (1971) 0.82
Chromosome abnormalities of leukaemic B lymphocytes in chronic lymphocytic leukaemia. Nature (1980) 0.82
Human male infertility, probably genetically determined, due to defective meiosis and spermatogenic arrest. Am J Hum Genet (1979) 0.82
Somatic hypermutation of immunoglobulin genes is independent of the Bloom's syndrome DNA helicase. Clin Exp Immunol (1998) 0.81
Analysis for possible linkage between the loci for the Waardenburg syndrome and various blood groups and serological traits. Humangenetik (1974) 0.81
Letter: Dyskeratosis congenita Zinsser-Cole-Engman form with abnormal karyotype. Dermatologica (1975) 0.81
Polymorphic chromosomes and gene assignment in man. Birth Defects Orig Artic Ser (1975) 0.81
The Roberts syndrome. Birth Defects Orig Artic Ser (1974) 0.80
Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs. Birth Defects Orig Artic Ser (1971) 0.80
The chromosomal complement of blastomeres in Arbacia punctulata. Chromosoma (1966) 0.80
Sister chromatid exchange in cells metabolically coupled to Bloom's syndrome cells. Nature (1980) 0.80
PBDX is the XG blood group gene. Nat Genet (1994) 0.80
Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome. Am J Med Genet (1991) 0.80
Human chromosomal deletion: two patients with the 4p- syndrome. J Pediatr (1970) 0.79
Developmental anomaly resembling the trisomy 18 syndrome. Ann Genet (1969) 0.79
First announcement of the Fanconi anemia International Registry. Blood (1982) 0.79