Published in Prenat Diagn on December 01, 1990
Prenatal diagnosis and confirmation of trisomy 12 mosaicism. Prenat Diagn (1991) 0.75
In vivo and in vitro chromosomal damage induced by LSD-25. N Engl J Med (1967) 2.39
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik (1965) 2.37
The response of lymphocytes from non-immunized humans to antigen-antibody complexes. Clin Exp Immunol (1968) 1.79
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet (1997) 1.71
Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues. Ann Intern Med (1966) 1.67
Paternal trisomy 21 mosaicism and Down's syndrome. Am J Hum Genet (1971) 1.65
Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. Cytogenetics (1966) 1.62
Studies on lysosomes. XII. Redistribution of acid hydrolases in human lymphocytes stimulated by phytohemagglutinin. J Cell Biol (1968) 1.58
Criminality in XYY and XXY men. Science (1976) 1.57
Trisomy 22: a clinical entity. J Pediatr (1971) 1.55
Stability of HL-A and appearance of other antigens (LIVA) at the surface of lymphoblasts grown in vitro. Haematologica (1969) 1.53
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern. Clin Genet (1972) 1.42
Appearance of hydrolase rich granules in human lymphocytes induced by phytohemagglutinin and antigens. Blood (1967) 1.35
Location of the genes for human heavy chain immunoglobulin to chromosome 6. Proc Natl Acad Sci U S A (1978) 1.35
Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. J Med Genet (1977) 1.30
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome. J Med Genet (1974) 1.29
Vinyl chloride exposure and human chromosome aberrations. Mutat Res (1975) 1.28
Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization. Ann Hum Genet (1984) 1.28
Precise identification of various chromosomal abnormalities. Ann Hum Genet (1973) 1.27
Chromosomal localization of human haemoglobin structural genes. Nature (1972) 1.26
Stimulation of human tonsillar lymphocytes in vitro. Clin Exp Immunol (1966) 1.23
64Cu metabolism in Menkes and normal cultured skin fibroblasts. Pediatr Res (1978) 1.21
Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts. J Clin Invest (1978) 1.19
Neonatal hepatitis and biliary atresia associated with trisomy 17-18 syndrome. N Engl J Med (1969) 1.17
L-asparaginase and blastogenesis. Lancet (1969) 1.16
Partial thyroxine-binding globulin deficiency in a family. Pediatrics (1969) 1.15
The production of immunoglobulins by human peripheral blood lymphocytes in vitro. Clin Exp Immunol (1967) 1.14
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification. Pediatr Res (1975) 1.13
Letter: Genetic heterogeneity in fucosidosis. Lancet (1973) 1.13
Leukemia in Fanconi's anemia: cytogenetic and tumor virus susceptibility studies. Blood (1970) 1.12
Double Beta-Lipoprotein: A New Genetic Variant in Man. Science (1965) 1.12
Products of lymphoid cells in continuous culture. Am J Pathol (1970) 1.10
Paternal uniparental disomy for chromosome 14: a case report and review. Am J Med Genet (1997) 1.10
Familial de Lange syndrome. Report of three cases in a sibship. Clin Genet (1971) 1.09
Isozymes of human alpha-L-fucosidase detectable by starch gel electrophoresis. Clin Chim Acta (1974) 1.09
A partial long arm deletion of chromosome 7:46,XY,del(7)(q32). J Med Genet (1977) 1.09
Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn (1992) 1.09
Polymorphism of human alpha fucosidase. Am J Hum Genet (1975) 1.09
Familial x/x translocation: t(x;x)(p22;q13) Cytogenet Cell Genet (1974) 1.08
Studies on ciliary dyskinesia factor in cystic fibrosis. IV. Its possible identification as anaphylatoxin (C3a)-IgG complex. Life Sci (1974) 1.07
XXXXY boy. A 15-month-old child with normal intellectual development. Am J Dis Child (1970) 1.06
Studies on ciliary dyskinesia factor in cystic fibrosis. I. Bioassay and heterozygote detection in serum. Pediatr Res (1973) 1.06
Patient care, resident stress, and government regulation. Am J Dis Child (1989) 1.06
The response of cultured lymphocytes from patients with systemic lupus erythematosus to DNA. Arthritis Rheum (1967) 1.05
In situ hybridization of chromosome loci. Fed Proc (1975) 1.04
Letter: Complement components in cystic fibrosis. Lancet (1973) 1.04
Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization. Cancer Genet Cytogenet (2000) 1.04
Cell-specific differences in membrane beta-glucosidase from normal and Gaucher cells. Biochim Biophys Acta (1977) 1.01
Observations on cell lines derived from a patient with Hodgkin's disease. Cancer Res (1978) 1.01
Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology (1983) 1.00
Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum Genet (1983) 1.00
The frequency of chromosome aberrations in tall men with special reference to 47, XYY and 47, XXY. Am J Hum Genet (1976) 0.99
Response of lymphocytes to penicillin: comparison with skin tests and circulating antibodies in man. Nature (1967) 0.98
Genetic and clinical considerations of long-arm deletion of the X chromosome. Pediatrics (1970) 0.97
Duplication of 16q and deletion of 15q. Am J Med Genet (1989) 0.97
Confirmation of the assignment of genes of human immunoglobulin heavy chains to chromosome 14 by analysis of Ig synthesis by man-mouse hybridomas. Eur J Immunol (1981) 0.95
Fucosidosis type 2. Pediatrics (1976) 0.94
Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization. Hum Genet (1985) 0.94
Human-mosquito somatic cell hybrids induced by ultraviolet-inactivated Sendai virus. Nat New Biol (1971) 0.93
Recurrent abortions and chromosome abnormalities. J Obstet Gynaecol Br Commonw (1972) 0.93
Cytogenetics of fetal wastage. N Engl J Med (1975) 0.93
Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism. J Med Genet (1978) 0.93
Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease. Am J Hum Genet (1978) 0.93
Fetal wastage and maternal mosaicism. Obstet Gynecol (1972) 0.93
Assignment of the gene locus for human alpha-L-fucosidase to chromosome 1 by analysis of somatic cell hybrids. Somatic Cell Genet (1978) 0.93
Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes". Am J Med Genet (1995) 0.92
Agammaglobulinemia: some current concepts. Med Clin North Am (1965) 0.92
Acid alpha-glucosidase: kinetic and immunologic properties of enzyme variants in health and disease. Isozymes Curr Top Biol Med Res (1983) 0.92
Kniest syndrome with dominant inheritance and mucopolysacchariduria. Am J Hum Genet (1975) 0.92
Ciliary-dyskinesia factor in immunological and pulmonary disease. Lancet (1973) 0.91
An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen. Am J Hum Genet (1980) 0.91
In situ hybridization for gene mapping. Cytogenet Cell Genet (1975) 0.91
Lymphocyte stimulation by allogeneic and autochthonous cultured lymphoid cells. Cell Immunol (1970) 0.91
Pompe's disease: detection of heterozygotes by lymphocyte stimulation. Science (1969) 0.91
Increased copper metallothionein in Menkes cultured skin fibroblasts. Pediatr Res (1981) 0.90
Clinical applications of comparative genomic hybridization. Genet Med (2001) 0.90
Deceleration of intellectual development in a XXXXY child: a follow-up. Am J Dis Child (1971) 0.89
Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant. Clin Genet (1976) 0.89
Lymphoproliferative potential in infectious diseases. Bull N Y Acad Med (1969) 0.89
Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia. Radiology (1967) 0.89
Prenatal diagnosis of genetic disease. Life Sci (1974) 0.89
Parental mosaicism in trisomy 18. Pediatrics (1972) 0.89
Chromosomal abnormalities in congenital rubella. N Engl J Med (1967) 0.89
Studies on ciliary dyskinesia factor in cystic fibrosis. 3. Skin fibroblasts and cultured amniotic fluid cells. Pediatr Res (1973) 0.88
Establishment of long-term lines from small aliquots of normal lymphocytes. Blood (1970) 0.87
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am J Med Genet (2001) 0.87
Studies of the copper-binding proteins in Menkes and normal cultured skin fibroblast lysates. J Cell Physiol (1981) 0.87
Heritability of ocular pressure in normal and suspect ranges. Arch Ophthalmol (1970) 0.87
Supernumerary small ring chromosome. J Med Genet (1977) 0.87
Studies on ciliary dyskinesia factor in cystic fibrosis. II. Short term leukocyte cultures and long term lymphoid lines. Pediatr Res (1973) 0.87
Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome. Cytogenet Cell Genet (2000) 0.86
47,XXY-48,XXXY-49,XXXXY mosaicism in a 4-year-old child. Am J Dis Child (1971) 0.86
Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms. Science (1975) 0.86
Persistence of phosphoglucomutase (PGM) polymorphism in long-term lymphoid lines. Proc Soc Exp Biol Med (1970) 0.86
LSD and chromosomes. N Engl J Med (1968) 0.86
Lymphoid suspension cultures from patients with viral hepatitis. Lancet (1968) 0.86
Prenatal chromosome analysis. Nature (1970) 0.86
Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution. Am J Med (1972) 0.86
Prenatal diagnosis of renal anomalies. Am J Med Genet (1977) 0.86
Problems in prenatal diagnosis resulting from chromosomal mosaicism. Clin Genet (1972) 0.85