Search Results - "Goodeve, A."

Hemophilia B: molecular pathogenesis and mutation analysis by Goodeve, A. C.

“…Summary Hemophilia B is an X‐chromosome‐linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factor IX activity…”
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Molecular diagnosis of von Willebrand disease by Baronciani, L., Goodeve, A., Peyvandi, F.

“…The role of molecular characterization in the diagnosis of von Willebrand disease (VWD) is not essential if the patients have been extensively investigated…”
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A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD) by TOSETTO, A., RODEGHIERO, F., CASTAMAN, G., GOODEVE, A., FEDERICI, A. B., BATLLE, J., MEYER, D., FRESSINAUD, E., MAZURIER, C., GOUDEMAND, J., EIKENBOOM, J., SCHNEPPENHEIM, R., BUDDE, U., INGERSLEV, J., VORLOVA, Z., HABART, D., HOLMBERG, L., LETHAGEN, S., PASI, J., HILL, F., PEAKE, I.

“…Background: A quantitative description of bleeding symptoms in type 1 von Willebrand disease (VWD) has never been reported. Objectives: The aim was to…”
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Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis by Castaman, G., Hillarp, A., Goodeve, A.

“…Summary The deficiency or abnormal function of von Willebrand factor (VWF) causes von Willebrand disease (VWD), the most frequent inherited bleeding disorder…”
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Identification of novel FLT‐3 Asp835 mutations in adult acute myeloid leukaemia by Abu‐Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. S., Peake, I. R., Reilly, J. T.

“…Genomic DNA from 97 cases of adult de novo acute myeloid leukaemia (AML) was screened using polymerase chain reaction (PCR) and conformation‐sensitive gel…”
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Nomenclature of genetic variants in hemostasis by GOODEVE, A. C., REITSMA, P. H., MCVEY, J. H.

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Deep intronic variations may cause mild hemophilia A by CASTAMAN, G., GIACOMELLI, S. H., MANCUSO, M. E., D'ANDREA, G., SANTACROCE, R., SANNA, S., SANTAGOSTINO, E., MANNUCCI, P. M., GOODEVE, A., RODEGHIERO, F.

“…Background: In about 10% of patients with mild hemophilia A, no candidate gene mutations are apparent after complete gene sequencing. Aim of the study: To…”
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Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM‐1VWD) by BUDDE, U., SCHNEPPENHEIM, R., EIKENBOOM, J., GOODEVE, A., WILL, K., DREWKE, E., CASTAMAN, G., RODEGHIERO, F., FEDERICI, A. B., BATLLE, J., PÉREZ, A., MEYER, D., MAZURIER, C., GOUDEMAND, J., INGERSLEV, J., HABART, D., VORLOVA, Z., HOLMBERG, L., LETHAGEN, S., PASI, J., HILL, F., PEAKE, I.

“…Background: Type 1 von Willebrand disease (VWD) is a congenital bleeding disorder characterized by a partial quantitative deficiency of plasma von Willebrand…”
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Genetic testing for von Willebrand disease: the case for by PEAKE, I. R., GOODEVE, A. C.

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Genetic analysis of bleeding disorders by Edison, E., Konkle, B. A., Goodeve, A. C.

“…Molecular genetic analysis of inherited bleeding disorders has been practised for over 30 years. Technological changes have enabled advances, from analyses…”
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FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group by ABU-DUHIER, F. M, GOODEVE, A. C, WILSON, G. A, GARI, M. A, PEAKE, I. R, REES, D. C, VANDENBERGHE, E. A, WINSHIP, P. R, REILLY, J. T

“…Genomic DNA from 106 cases of adult de novo acute myeloid leukaemia (AML) was screened by polymerase chain reaction (PCR) and gel electrophoresis for FLT3…”
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Genomics of bleeding disorders by Goodeve, A. C., Pavlova, A., Oldenburg, J.

“…Summary Molecular genetic tools are widely applied in inherited bleeding disorders. New genes involved in haemorrhagic disorders have been identified by genome…”
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Confirmation of genetic testing results in haemostasis and thrombosis - survey of current practice in the field by Jennings, I., Goodeve, A., Theophilus, B., Hill, M., Cumming, A., Kitchen, S., Walker, I. D., Perry, D.

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In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion by Cartwright, A., Peake, I. R., Goodeve, A. C., Hampshire, D. J.

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Aberrant methylation of the negative regulators RASSFIA, SHP‐1 and SOCS‐1 in myelodysplastic syndromes and acute myeloid leukaemia by Johan, M. F., Bowen, D. T., Frew, M. E., Goodeve, A. C., Reilly, J. T.

“…Summary Mutations in the receptor tyrosine kinase (RTK/RAS) signalling pathway frequently provide a proliferative signal in myeloid malignancies. However, the…”
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Fifth Åland Island conference on von Willebrand disease by Berntorp, E., Ågren, A., Aledort, L., Blombäck, M., Cnossen, M. H., Croteau, S. E., Depka, M., Federici, A. B., Goodeve, A., Goudemand, J., Mannucci, P. M., Mourik, M., Önundarson, P. T., Rodeghiero, F., Szántó, T., Windyga, J.

“…The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016—90 years after the first…”
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Another step towards understanding hemophilia A molecular pathogenesis by GOODEVE, A. C.

“…See also Zimmermann MA, Oldenburg J, Müller CR, Rost S. Characterization of duplication breakpoints in the factor VIII gene. This issue, pp 2696–704…”
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Type 1 von Willebrand disease by PEAKE, I., GOODEVE, A.

“…Summary  Since its first description in 1926, the precise nature and indeed significance of von Willebrand factor (VWD) in the area of human bleeding has been…”
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Vicenza deciphered: modeling the von Willebrand disease enigma: commentary on accelerated clearance alone explains ultralarge multimers in VWD Vicenza by GOODEVE, A. C.

“…See also Gézsi A, Budde U, Deák I, Nagy E, Mohl A, Schlammadinger Á, Boda Z, Masszi T, Sadler JE, Bodó I. Accelerated clearance alone explains ultra‐large…”
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The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network by Keeney, S., Mitchell, M., Goodeve, A.

“…Haemophilia A is a common inherited bleeding disorder that has a well‐understood pathophysiology. Our understanding of the molecular genetics of the disease…”
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