Search Results - "Klasen, EC"

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    Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia by Smit, M, van der Kooij-Meijs, E, Frants, R R, Havekes, L, Klasen, E C

    Published in Human genetics (01-01-1988)
    “…Recently, using an APOE cDNA probe, we discovered an Hpa I restriction fragment length polymorphism (RFLP) that appeared to be strongly associated with the…”
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    Genetic aspects of erythropoietic protoporphyria by Went, L N, Klasen, E C

    Published in Annals of human genetics (01-05-1984)
    “…An exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder in 91 families. In 46 of these…”
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    Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene by Hofker, M H, Nelen, M, Klasen, E C, Nukiwa, T, Curiel, D, Crystal, R G, Frants, R R

    “…Cosmid clones containing alpha 1-antitrypsin (alpha 1AT) gene sequences were observed to contain alpha 1AT-like sequences approximately 12 kb downstream of the…”
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    alpha 1-antitrypsin phenotype and gene distribution in Southern Italy by Klasen, E C

    Published in Human heredity (1981)
    “…Sera from 150 individuals from Southern Italy were screened for alpha 1-antitrypsin (alpha 1AT) types. The frequencies of the Pi alleles were compared with…”
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    A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen by Hofker, M H, Nukiwa, T, van Paassen, H M, Nelen, M, Kramps, J A, Klasen, E C, Frants, R R, Crystal, R G

    Published in Human genetics (01-02-1989)
    “…The molecular defect has been elucidated in the alpha-1-antitrypsin (PI) gene of a patient with a serum level of only 5 mg/100 ml and a PI M-like phenotype,…”
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    The N-terminal sequence of antileukoprotease isolated from bronchial secretion by Klasen, E C, Kramps, J A

    “…Antileukoprotease (ALP) was isolated from bronchial secretion. The amino acid composition as well as the N-terminal sequence were determined. No homology with…”
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    The flaccid lung syndrome and alpha 1-protease inhibitor deficiency by Laros, K D, Biemond, I, Klasen, E C

    Published in Chest (01-04-1988)
    “…We examined breathing mechanics and alpha 1PI deficiency in 1,850 unrelated male subjects with various lung complaints. The loss in lung elasticity appeared to…”
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    Alpha 1-antitrypsin deficiency and PI typing in patients with chronic urticaria by Doeglas, H M, Klasen, E C, Bleumink, E

    Published in British journal of dermatology (1951) (01-04-1985)
    “…A group of 281 patients with chronic urticaria was classified into various subtypes and compared with 357 healthy controls for PI types of alpha1-antitrypsin…”
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    Linkage studies in facioscapulohumeral muscular dystrophy by Padberg, G W, Klasen, E C, Volkers, W S, De Lange, G G, Wintzen, A R

    Published in Muscle & nerve (01-08-1988)
    “…Possible linkage between the locus for autosomal dominant facioscapulo-humeral muscular dystrophy and the locus for the constant region of the heavy chains of…”
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    Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversy by Klasen, E C, Biemond, I, Laros, C D

    Published in Clinical genetics (01-03-1986)
    “…A significantly higher number of PI ZZ and PI MZ individuals was found in a flaccid lung population as compared to internal and healthy controls. The relative…”
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    Characterization of a low molecular weight anti-elastase isolated from human bronchial secretion by Kramps, J A, Klasen, E C

    Published in Experimental lung research (1985)
    “…An elastase-specific, low molecular weight inhibitor was isolated from human bronchial secretions that is able to inhibit porcine pancreatic elastase and human…”
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    Population genetics of alpha1-antitrypsin in the Netherlands. Description of a new electrophoretic variant by Klasen, E C, Franken, C, Volkers, W S, Bernini, L F

    Published in Human genetics (26-07-1977)
    “…Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for…”
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    Apolipoprotein E phenotype and gene distribution in The Netherlands by Klasen, E C, Smit, M, de Kniff, P, Gevers Leuven, J, Kempen-Voogd, R, Havekes, L

    Published in Human heredity (1987)
    “…2,000 male individuals randomly selected from three different areas in The Netherlands were phenotyped for apolipoprotein E. The apolipoprotein E gene…”
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    alpha 1-Antitrypsin-levels and phenotypes in Crohn's disease in the Netherlands by Klasen, E C, Biemond, I, Weterman, I T

    Published in Gut (01-10-1980)
    “…A group of 310 unrelated patients suffering from Crohn's disease has been screened for quantitative and electrophoretic variations of alpha 1-antitrypsin…”
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    Different characteristics of ferrochelatase in cultured fibroblasts of erythropoietic protoporphyria patients and normal controls by Blom, C, Klasen, E C, Van Steveninck, J

    Published in Biochimica et biophysica acta (06-07-1990)
    “…Ferrochelatase activity was measured in crude extracts of fibroblasts, obtained from erythropoietic protoporphyria patients and healthy controls. The enzyme…”
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    Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue by Smit, M, de Knijff, P, Frants, R R, Klasen, E C, Havekes, L M

    Published in Clinical genetics (01-11-1987)
    “…Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apolipoprotein E (apoE) polymorphism, whereas patients with the E4/E2 or E3/E2…”
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    Clearance of alpha 1-antitrypsin isoelectric focusing patterns in blood samples treated with heparin by Klasen, E C, De Brij, R J

    Published in Clinica chimica acta (16-07-1979)
    “…Plasma samples, whose typing for alpha 1-AT is made difficult or impossible because of an excess of heparin used as anticoagulant, can be treated very…”
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    Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization by Klasen, E C, Hofker, M H, van Paassen, H M, Verlaan-de Vries, M, Bos, J L, Frants, R R

    Published in Clinica chimica acta (01-12-1987)
    “…Oligonucleotide probes, specific for the two most common deficiency variants, Z and S, of alpha-1-antitrypsin have been successfully applied for the diagnosis…”
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