Výsledky vyhledávání

Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460

Autor: RM Bertina, HK Ploos van Amstel, A van Wijngaarden, J Coenen, MP Leemhuis, PP Deutz-Terlouw, IK van der Linden, PH Reitsma

Publikováno v: Blood. 76:538-548

We recently developed an enzyme-linked immunosorbent assay (ELISA) for total protein S (PS) antigen using the monoclonal antibody S-12. During the screening of thrombophilic patients we identified a patient, who was using marcoumar, with 0% PS by mon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae5959fa63527ebc8bf44573b2abd198
https://doi.org/10.1182/blood.v76.3.538.bloodjournal763538

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Apparent different thrombotic tendency in patients with factor V Leiden and protein C deficiency due to selection of patients

Autor: Rp, Lensen, Fr, Rosendaal, Koster T, Cf, Allaart, de Ronde H, Jan P Vandenbroucke, Ph, Reitsma, Rm, Bertina

Publikováno v: Europe PubMed Central

Both activated protein C (APC) resistance and protein C deficiency are associated with an increased risk for venous thrombosis. To assess their tendencies to venous thrombosis, we compared the median age of first venous thromboembolism in patients wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5fdaf7fd01ada0e42a719becb2c47c7
https://pubmed.ncbi.nlm.nih.gov/8943855

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Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

Autor: VR Arruda, WC Pieneman, PH Reitsma, PP Deutz-Terlouw, JM Annichino-Bizzacchi, E Briet, FF Costa

Publikováno v: Blood. 86(8)

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7400a5f37f15bfb385743541ff5563
https://pubmed.ncbi.nlm.nih.gov/7579394

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Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis

Autor: Rm, Bertina, Ph, Reitsma, Fr, Rosendaal, Jan P Vandenbroucke

Publikováno v: Europe PubMed Central

The recent discovery of the factor V Leiden mutation as the molecular defect in the large majority of APC-resistant individuals, has drastically changed our view on familial thrombophilia and it has contributed to a better understanding of the intera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::869ffc506698bbc137f0dbd2392976ab
https://pubmed.ncbi.nlm.nih.gov/8578504

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High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance)

Autor: Fr, Rosendaal, Koster T, Jan P Vandenbroucke, Ph, Reitsma

Publikováno v: Europe PubMed Central

Resistance to activated protein C (APC) is a common inherited risk factor for venous thrombosis, which is associated with a mutation in coagulation factor V (factor V Leiden). We investigated the risk of venous thrombosis in individuals homozygous fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::83e7e3750b22c36848f03c659cc2dd3c
https://pubmed.ncbi.nlm.nih.gov/8541565

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Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families

Autor: Hh, Boven, Rj, Olds, Sl, Thein, Ph, Reitsma, Da, Lane, Briët E, Jan P Vandenbroucke, Fr, Rosendaal

Publikováno v: Europe PubMed Central

We studied the molecular basis and genetic heterogeneity of hereditary antithrombin (III) deficiency in nine Dutch families. Polymerase chain reaction (PCR) amplification and direct sequencing of all antithrombin gene exons and flanking intronic regi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::57f44f8dc4935b40ee9dbf5adf565e0f
https://pubmed.ncbi.nlm.nih.gov/7994035

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Construction and characterization of thrombin-resistant variants of recombinant human protein S

Autor: Gt, Chang, Aaldering L, Tilman Hackeng, Ph, Reitsma, Rm, Bertina, Bn, Bouma

Publikováno v: Europe PubMed Central

Protein S is a vitamin K-dependent plasma protein that functions as a cofactor of activated protein C (APC) in the inactivation of coagulation factors Va and VIIIa. Protein S, migrates as a doublet on reduced SDS polyacrylamide gel electrophoresis. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f7f70b7a66fd725373989fb6d38cedcf
https://pubmed.ncbi.nlm.nih.gov/7900076

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Novel human pathological mutations. Gene symbol: PROS1. Disease: Protein S deficiency

Autor: Alhenc-Gelas M, Delphine Borgel, Gandrille S, Aa, Garcia, Pintao M, Ph, Reitsma, Ca, Spek, Mc, Visser

Publikováno v: Scopus-Elsevier
Europe PubMed Central
Human Genetics, 127, 1, pp. 121-121
Human genetics, 127(1). Springer Verlag
Human Genetics, 127, 121-121

Item does not contain fulltext 01 januari 2010

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e09461b0066df97e7fe9486974d968df
https://hdl.handle.net/2066/89913

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Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA

Autor: Jeroen Eikenboom, Hk, Ploos Amstel, Ph, Reitsma, Briët E

Publikováno v: Europe PubMed Central

The von Willebrand factor (vWF) genes of nine unrelated, severe, type III von Willebrand's disease (vWD) patients (six of Dutch origin) and four unrelated Dutch type I vWD patients were screened for mutations in exons that contain CGA codons (Arg), w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3fd4e432d802e59803d8f2566f04d371
https://pubmed.ncbi.nlm.nih.gov/1448779

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