Search Results - "HUIJBREGTS, C. C. M"
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Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p
Published in European journal of medical genetics (01-04-2012)“…Abstract In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible…”
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
Published in American journal of medical genetics. Part A (01-07-2009)“…We present a family with multiple cytogenetic abnormalities, identified through a girl with several dysmorphic features and cardiac problems, suspected for…”
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Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report
Published in Molecular cytogenetics (13-07-2009)“…Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because…”
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Characterization of recombinant C1 inhibitor P1 variants
Published in The Journal of biological chemistry (05-04-1992)“…Twelve human C1 inhibitor P1 variants were constructed by site-directed mutagenesis of the codon for arginine 444 and were expressed in COS-1 cells to analyze…”
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Quantification of plasma factor XIIa-Cl-inhibitor and kallikrein-Cl-inhibitor complexes in sepsis
Published in Blood (01-12-1988)“…Considerable evidence indicates that activation of the contact system of intrinsic coagulation plays a role in the pathogenesis of septic shock. To monitor…”
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Proteolytic inactivation of plasma C1 inhibitor in sepsis
Published in The Journal of clinical investigation (01-08-1989)“…Activation of both the complement system and the contact system of intrinsic coagulation is implicated in the pathophysiology of sepsis. Because C1 inhibitor…”
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A novel sensitive assay for functional factor XII based on the generation of kallikrein-C1-inhibitor complexes in factor XII-deficient plasma by glass-bound factor XII
Published in Thrombosis and haemostasis (01-06-1992)“…We developed a very sensitive assay for functional factor XII. This assay is based on the property of glass-bound factor XII to activate prekallikrein (PK)…”
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Recombinant C1 inhibitor P5/P3 variants display resistance to catalytic inactivation by stimulated neutrophils
Published in The Journal of clinical investigation (01-03-1993)“…Proteolytic inactivation of serine protease inhibitors (serpins) by neutrophil elastase (HNE) is presumed to contribute to the deregulation of plasma cascade…”
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Activation of the Contact System of Coagulation by a Monoclonal Antibody Directed Against a Neodeterminant in the Heavy Chain Region of Human Coagulation Factor XII (Hageman Factor)
Published in The Journal of biological chemistry (05-08-1989)“…We studied the characteristics of two monoclonal antibodies (mAbs), F1 and F3, against human coagulation factor XII (Hageman factor). Experiments with…”
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Influence of ionic strength, EDTA concentration, endogenous C1q and polyanions on the 125I-C1q-binding test
Published in Journal of immunological methods (03-08-1984)“…Several parameters of the 125I-C1q-binding test were investigated: ionic strength, pH, concentration of EDTA, influence of serum C1q and the possibility of…”
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