Published in Nature on February 03, 1977
DNA double-strand breaks caused by replication arrest. EMBO J (1997) 4.18
Role of Schizosaccharomyces pombe RecQ homolog, recombination, and checkpoint genes in UV damage tolerance. Mol Cell Biol (1997) 2.76
RecQ helicases: guardian angels of the DNA replication fork. Chromosoma (2008) 2.43
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev (1998) 2.12
Possible association of BLM in decreasing DNA double strand breaks during DNA replication. EMBO J (2000) 1.78
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc Natl Acad Sci U S A (1981) 1.62
Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci U S A (1987) 1.31
Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs. Nucleic Acids Res (2000) 1.26
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet (1988) 1.20
12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts. Proc Natl Acad Sci U S A (1982) 1.06
Sister chromatid exchange analysis. Am J Hum Genet (1980) 1.02
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
Clastogenic activity from Bloom syndrome fibroblast cultures. Proc Natl Acad Sci U S A (1981) 0.91
DNA ligase activity in human cell lines from normal donors and Bloom's syndrome patients. Nucleic Acids Res (1989) 0.83
DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells. Nucleic Acids Res (1993) 0.82
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. Am J Hum Genet (1980) 0.82
DNA polymerases alpha beta and gamma in inherited diseases affecting DNA repair. Nucleic Acids Res (1978) 0.80
A clinical study of a family with Cockayne's syndrome. J Med Genet (1981) 0.76
Tumours of the skin. Proc R Soc Med (1977) 0.75
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. Am J Hum Genet (1981) 0.75
BLM Deficiency Is Not Associated with Sensitivity to Hydroxyurea-Induced Replication Stress. J Nucleic Acids (2010) 0.75
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet (1981) 2.22
Progressive cardiomyopathic lentiginosis. Q J Med (1972) 1.83
Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1. Ann Hum Genet (1974) 1.81
Poliomyelitis antibody titres in children and effect of live and inactivated poliovaccine. Lancet (1969) 1.58
Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes. Nature (1970) 1.58
Neural-tube defects and vitamins: the need for a randomized clinical trial. Br J Obstet Gynaecol (1984) 1.56
A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate. Dev Med Child Neurol (1972) 1.50
Parental exposure to x-irradiation and Down's syndrome. Ann Hum Genet (1972) 1.46
Chromosome abnormalities and maternal age. Lancet (1976) 1.42
The gum-elastic bougie: a life saver. Anesth Analg (1992) 1.38
Three dicentric Y chromosomes. Ann Hum Genet (1970) 1.37
Cardiomegaly in a Newborn Due to Placental Chorioangioma. Br Med J (1961) 1.36
Detection of Bordetella pertussis antibodies in human sera by complement-fixation and immunofluorescence. J Hyg (Lond) (1972) 1.33
Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems. J Med Genet (1979) 1.33
Transient Dysphagia Due to Muscular Inco-ordination. Proc R Soc Med (1962) 1.32
Neural tube defects in curly-tail mice. II. Effect of maternal administration of vitamin A. Proc R Soc Lond B Biol Sci (1979) 1.30
Probable assignment of the alpha locus of haptoglobin to chromome 16 in man. Nature (1969) 1.25
Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. Q J Med (1979) 1.24
Centromere localization at meiosis and the position of chiasmata in the male and female mouse. Chromosoma (1972) 1.23
Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor. Hum Genet (1982) 1.23
EUK-8, a synthetic superoxide dismutase and catalase mimetic, ameliorates acute lung injury in endotoxemic swine. J Pharmacol Exp Ther (1995) 1.21
Autosomal imbalance and its syndromes, excluding down's. Br Med Bull (1969) 1.20
Prenatal cytological recognition of sex-linked and chromosomal abnormalities. J Obstet Gynaecol Br Commonw (1971) 1.20
Y-fluorescence of interphase nuclei, especially circulating lymphocytes. Br Med J (1971) 1.19
Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man. Philos Trans R Soc Lond B Biol Sci (1970) 1.15
The incidence of developmental and other genetic abnormalities. Guys Hosp Rep (1973) 1.13
Transplantation of allogeneic haemopoietic tissue in adult anaemic mice of the W series using antilymphocytic serum. Lancet (1969) 1.10
Chromosome anomalies and the brain. Guys Hosp Rep (1967) 1.06
Parental x-irradiation and chromosomes constitution in their spontaneously aborted foetuses. Ann Hum Genet (1972) 1.05
Neural tube defects in curly-tail mice. I. Incidence, expression and similarity to the human condition. Proc R Soc Lond B Biol Sci (1979) 1.04
Chiasmata, meiotic univalents, and age in relation to aneuploid imbalance in mice. Cytogenet Cell Genet (1976) 1.04
A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease. Clin Chim Acta (1978) 1.03
Experimental chimerism in a genetic defect in the house mouse Mus musculus. Nature (1966) 1.03
Prenatal diagnosis of galactosaemia. Br Med J (1974) 0.99
Differences in patterns of complementation of the more common groups of xeroderma pigmentosum: possible implications. Cell (1982) 0.99
Enzyme replacement therapy by fibroblast transplantation in a case of Hunter syndrome. Nature (1976) 0.99
Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes. Lancet (1978) 0.98
Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet (1982) 0.97
Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). Clin Genet (1987) 0.96
Immunoglobulins and the X-chromosome. Br Med J (1969) 0.96
Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes). Br Heart J (1972) 0.95
Chromosomal abnormalities and congenital heart disease. Guys Hosp Rep (1968) 0.95
Y heterochromatin and XX males. Nature (1970) 0.95
Chimaerism of primordial germ cells in the early postimplantation mouse embryo following microsurgical grafting of posterior primitive streak cells in vitro. J Embryol Exp Morphol (1986) 0.93
Chromosome findings in chronic psychotic patients. Br J Psychiatry (1968) 0.93
Planning an amniocentesis service for Down syndrome. Lancet (1979) 0.92
Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency. Lancet (1974) 0.91
Neural tube development in mutant (curly tail) and normal mouse embryos: the timing of posterior neuropore closure in vivo and in vitro. J Embryol Exp Morphol (1982) 0.91
Mobilization of glycosaminoglycans by plasma infusion in mucopolysaccharidosis type 3--two types of response. Nat New Biol (1973) 0.90
Chromosome anomalies and abortions. Dev Med Child Neurol (1966) 0.90
Letter: Spontaneous abortion and neural tube defects. Br Med J (1973) 0.90
Increased breakdown of glycosaminoglycans and appearance of corrective enzyme after skin transplants in Hunter syndrome. Nature (1975) 0.90
Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosaemia. Clin Chim Acta (1975) 0.90
A three chromosome translocation involving two homologous chromosomes in a trisomic abortus. Clin Genet (1976) 0.89
Leucocyte-hexokinase isoenzymes in Down's syndrome. Lancet (1968) 0.89
Family studies on esterase D and chromosome 13 in man. Cytogenet Cell Genet (1976) 0.87
Chromosome anomalies, mosaicism and dermatoglyphic asymmetry. Ann Hum Genet (1969) 0.87
Cancer and sex chromosomes. Br Med J (1968) 0.87
Mouse germ cells and LSD-25. Cytogenetics (1969) 0.87
A collaborative study of the aetiology of Turner syndrome. Ann Hum Genet (1980) 0.87
Family studies on esterase D and chromosome 13 in man. Birth Defects Orig Artic Ser (1976) 0.86
200 infertile males: correlation of chromosome, histological, endocrine and clinical studies. Br J Urol (1975) 0.85
Fibroblast phosphodiesterase deficiency in Niemann-Pick disease. Biochem Biophys Res Commun (1977) 0.85
A dermatoglyphic study of 219 Italian schizophrenic males. Clin Genet (1976) 0.85
Maternal environment and the expression of murine neural tube defects. Prenat Diagn (1981) 0.85
Levels of alpha-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects. J Med Genet (1976) 0.84
Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome. J Clin Invest (1979) 0.83
Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes. J Inherit Metab Dis (1980) 0.83
Sex-chromosome anomalies: recent developments. Sci Basis Med Annu Rev (1965) 0.83
Incidence of developmental and other genetic abnormalities. Proc R Soc Med (1973) 0.83
Effectiveness of HLA-compatible fibroblasts for enzyme replacement therapy in the mucopolysaccharidoses. Pediatr Res (1982) 0.83
Thyroid function in Turner's syndrome and allied conditions. Lancet (1970) 0.83
Prenatal diagnosis of Farber's disease. Lancet (1979) 0.83
Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case. Lancet (1974) 0.83
Segregation of ACP1 and MNSs in families with structural rearrangements involving chromosome 2. Ann Hum Genet (1975) 0.82
Thyroid antibodies and sex-chromosome anomalies. Proc R Soc Med (1968) 0.82
DNA repair synthesis in human heterokaryons. II. A test for heterozygosity in xeroderma pigmentosum and some insight into the structure of the defective enzyme. J Cell Sci (1974) 0.82
Meiotic crossing over exchange in the female mouse visualised by BUdR substitution. Nature (1979) 0.82
Growing points in cell pathology. Cytogenetic aspects. Proc R Soc Med (1970) 0.81
Pompe's disease--detection of maternal heterozygote and antenatal exclusion in the fetus. Guys Hosp Rep (1972) 0.81
Hydroxyproline excretion in idiopathic, congenital, and paralytic scoliosis. Arch Dis Child (1972) 0.81
Protein and RNA synthesis in trisomic Down's syndrome leucocytes. Nature (1967) 0.81
Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease. J Med Genet (1976) 0.81
Meiosis in trisomic female mice with Robertsonian translocations. II. Chromosome behaviour at first and second meiotic metaphases. Cytogenet Cell Genet (1989) 0.80
Induction of adenylate cyclase activity in cultured human fibroblasts during increasing cell population density. Biochem J (1972) 0.80
John Alexander Fraser Roberts: 8 September 1899-15 January 1987. Biogr Mem Fellows R Soc (1992) 0.79
Chromosome anomalies in primary lymphoedema. Lancet (1967) 0.79
DNA repair defects and chromosome instability disorders. Ciba Found Symp (1979) 0.79
GM1-generalized gangliosidosis variant with cardiomegaly. Postgrad Med J (1976) 0.79
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. Am J Hum Genet (1980) 0.79
Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin. Prenat Diagn (1981) 0.79
Prenatal diagnosis of a galactosaemia heterozygote by fetal blood enzyme assay. Br Med J (1979) 0.79
Abnormal sex chromosomes and mental disorders. Nature (1969) 0.79
Lumbar kyphosis in Hunter's disease (MPS ii). Clin Genet (1979) 0.79
Xeroderma Pigmentosum and medulloblastoma: chromosomal damage to lymphocytes during radiotherapy. Radiat Res (1981) 0.79