Published in Humangenetik on June 26, 1974
Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet (1990) 1.02
Assignment of the AK1:Np:ABO linkage group to human chromosome 9. Proc Natl Acad Sci U S A (1976) 1.00
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
The absence of a relation between the periconceptional use of vitamins and neural-tube defects. National Institute of Child Health and Human Development Neural Tube Defects Study Group. N Engl J Med (1989) 3.82
Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement. J Exp Med (1974) 3.38
The overlap syndrome of asthma and COPD: what are its features and how important is it? Thorax (2009) 3.30
Heterogeneity of airway inflammation in persistent asthma : evidence of neutrophilic inflammation and increased sputum interleukin-8. Chest (2001) 3.19
Infectious Mononucleosis: An Autopsy Report. Am J Pathol (1947) 2.88
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet (1969) 2.87
Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA (2001) 2.79
Sex ratio associated with timing of insemination and length of the follicular phase in planned and unplanned pregnancies during use of natural family planning. Hum Reprod (1998) 2.67
Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet (1974) 2.49
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36
Are obese women at higher risk for producing malformed offspring? Am J Obstet Gynecol (1994) 2.31
Linkage of HL-A and GBG. Vox Sang (1974) 2.23
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci U S A (1989) 2.22
Moderate caffeine use and the risk of spontaneous abortion and intrauterine growth retardation. JAMA (1993) 2.20
Down syndrome is not increased in offspring of natural family planning users (case control analysis) Am J Med Genet (1995) 2.13
Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet (1987) 2.10
Stability of solutions to certain nonlinear difference equations of population genetics. Biometrics (1969) 2.07
A retarded rate of DNA chain growth in Bloom's syndrome. Proc Natl Acad Sci U S A (1975) 2.06
The 13q-deletion syndrome. Am J Hum Genet (1969) 2.06
Neutrophil degranulation and cell lysis is associated with clinical severity in virus-induced asthma. Eur Respir J (2002) 1.92
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma (1974) 1.82
Soluble RAGE is deficient in neutrophilic asthma and COPD. Eur Respir J (2011) 1.76
Genetically determined sex-reversal in 46,XY humans. Science (1978) 1.76
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn (2002) 1.74
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
Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol (1980) 1.60
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
Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron (1989) 1.51
Different inflammatory phenotypes in adults and children with acute asthma. Eur Respir J (2011) 1.50
Lack of relation of increased malformation rates in infants of diabetic mothers to glycemic control during organogenesis. N Engl J Med (1988) 1.50
Risk of neural tube defects in relation to maternal fertility and fertility drug use. Lancet (1990) 1.49
Shared HLA antigens and reproductive performance among Hutterites. Am J Hum Genet (1983) 1.47
The Roberts syndrome. Clin Genet (1974) 1.45
Micromethod for rapid separation of lymphocytes from peripheral blood. Ann Clin Lab Sci (1973) 1.44
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43
Metabolic control and progression of retinopathy. The Diabetes in Early Pregnancy Study. National Institute of Child Health and Human Development Diabetes in Early Pregnancy Study. Diabetes Care (1995) 1.42
Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program. Am J Obstet Gynecol (1985) 1.42
Pregnancy and the timing of intercourse. N Engl J Med (1995) 1.41
Risk evaluation of CVS. Prenat Diagn (1993) 1.40
Low maternal serum alpha-fetoprotein and perinatal outcome. Am J Obstet Gynecol (1987) 1.39
Risk of recurrent spontaneous abortion for pregnancies discovered in the fifth week of gestation. Lancet (1994) 1.37
Comparison of real-time cholecystosonography and oral cholecystography. Radiology (1980) 1.36
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
Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 1.35
Maternal serum screening for fetal Down syndrome in women less than 35 years of age using alpha-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study. Obstet Gynecol (1992) 1.34
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
Heritability and molecular genetic studies of endometriosis. Hum Reprod Update (2000) 1.30
Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet (1986) 1.29
Prenatal diagnosis by use of fetal cells isolated from maternal blood. Am J Obstet Gynecol (1995) 1.29
Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum Genet (1979) 1.29
Serology for automated cytotoxicity assays. Contrast fluorescence test. Vox Sang (1974) 1.28
Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat Diagn (1989) 1.27
Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2. Science (1973) 1.27
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. Am J Hum Genet (2000) 1.24
A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig Artic Ser (1975) 1.22
Incidence of spontaneous abortion among normal women and insulin-dependent diabetic women whose pregnancies were identified within 21 days of conception. N Engl J Med (1988) 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
Carbonyl-carbonyl interactions stabilize the partially allowed Ramachandran conformations of asparagine and aspartic acid. Protein Eng (1999) 1.17
Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. Am J Med Genet (1979) 1.16
Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. Am J Med Genet (2001) 1.16
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
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
Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement. Humangenetik (1974) 1.12
Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients. J Pediatr (1970) 1.11
Frequency of diabetes mellitus in mothers of probands with gestational diabetes: possible maternal influence on the predisposition to gestational diabetes. Am J Obstet Gynecol (1985) 1.10
Mongolism, delayed fertilization and human sexual behaviour. Nature (1968) 1.09
Sister chromatid exchanges after exposure to ultrasound and mitomycin C. Am J Obstet Gynecol (1984) 1.07
Gender verification of female athletes. Genet Med (2001) 1.07
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet (1998) 1.06
Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest (1975) 1.06
Genes which increase chromosomal instability in somatic cells and predispose to cancer. Prog Med Genet (1972) 1.06
Adverse outcomes of planned and unplanned pregnancies among users of natural family planning: a prospective study. Am J Public Health (1997) 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
Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. Birth Defects Orig Artic Ser (1971) 1.05
Cystic neoplasms of the pancreas: new angiographic and ultrasonographic findings. AJR Am J Roentgenol (1978) 1.04
Trimethadione and human teratogenesis. Teratology (1970) 1.04
A test for Fanconi's anemia. Blood (1987) 1.04
Adverse effects of human leukocyte antigen-DR sharing on fertility: a cohort study in a human isolate. Fertil Steril (1985) 1.04
A second example of anti-Lan. Vox Sang (1968) 1.03
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
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am J Hum Genet (1993) 1.01
Late first-trimester invasive prenatal diagnosis: results of an international randomized trial. Obstet Gynecol (2004) 1.01
Pa 1, a new inherited alpha-2-globulin of human serum. Vox Sang (1967) 1.01