Published in Isozymes Curr Top Biol Med Res on January 01, 1983
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J (1988) 2.44
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest (1987) 1.45
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem J (1990) 1.24
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet (1995) 1.01
Adult and infantile glycogenosis type II in one family, explained by allelic diversity. Am J Hum Genet (1990) 0.81
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
Identification of an erm(A) erythromycin resistance methylase gene in Streptococcus pneumoniae isolated in Greece. Antimicrob Agents Chemother (2001) 1.50
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
Resistance patterns of streptococcus pneumoniae from carriers attending day-care centers in southwestern Greece. Clin Infect Dis (1997) 1.19
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
Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and the esterification of cholesterol in human long term lymphoid cell lines. Biochemistry (1976) 1.14
Ocular abnormalities in patients with beta thalassemia. Am J Ophthalmol (1989) 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
Polymorphism of human alpha fucosidase. Am J Hum Genet (1975) 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
Familial de Lange syndrome. Report of three cases in a sibship. Clin Genet (1971) 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
Familial x/x translocation: t(x;x)(p22;q13) Cytogenet Cell Genet (1974) 1.08
Trisomy 12 mosaicism detected by mid-trimester amniocentesis. Prenat Diagn (1990) 1.07
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
Patient care, resident stress, and government regulation. Am J Dis Child (1989) 1.06
Studies on ciliary dyskinesia factor in cystic fibrosis. I. Bioassay and heterozygote detection in serum. Pediatr Res (1973) 1.06
The response of cultured lymphocytes from patients with systemic lupus erythematosus to DNA. Arthritis Rheum (1967) 1.05
Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization. Cancer Genet Cytogenet (2000) 1.04
Letter: Severe combined immunodeficiency and adenosine-deaminase deficiency. Lancet (1973) 1.04
Letter: Complement components in cystic fibrosis. Lancet (1973) 1.04
In situ hybridization of chromosome loci. Fed Proc (1975) 1.04
Long-term lymphoid cell lines in the study of human genetics. Prog Med Genet (1976) 1.01
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
Increased levels and positive correlation between erythropoietin and hemoglobin concentrations in newborn children of mothers who are smokers. J Pediatr (1994) 1.00
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
Antimicrobial use and colonization with erythromycin-resistant Streptococcus pneumoniae in Greece during the first 2 years of life. Clin Infect Dis (2000) 0.96
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
Chromosome structure and function in man. II. Provisional maps of the two smallest autosomes (chromosomes 21 and 22) at pachytene in the male. Cytogenetics (1971) 0.93
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
Sterile cerebrospinal fluid pleocytosis in young infants with urinary tract infection. Pediatr Infect Dis J (2001) 0.92
Adenosine deaminase. Alterations in activity and isozymes during growth of normal and genetically deficient fibroblasts. Exp Cell Res (1978) 0.92
Kniest syndrome with dominant inheritance and mucopolysacchariduria. Am J Hum Genet (1975) 0.92
Molecular epidemiology of penicillin-nonsusceptible Streptococcus pneumoniae among children in Greece. J Clin Microbiol (2000) 0.92
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
Effect of birth weight and maternal smoking on cord blood leptin concentrations of full-term and preterm newborns. J Clin Endocrinol Metab (1997) 0.92
Ciliary-dyskinesia factor in immunological and pulmonary disease. Lancet (1973) 0.91
Lymphocyte stimulation by allogeneic and autochthonous cultured lymphoid cells. Cell Immunol (1970) 0.91
Carriage of antibiotic-resistant Streptococcus pneumoniae in Greek infants and toddlers. Eur J Clin Microbiol Infect Dis (2000) 0.91
An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen. Am J Hum Genet (1980) 0.91