The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
M.-c. Poon - One of the best experts on this subject based on the ideXlab platform.
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patterns of tertiary prophylaxis in canadian adults with severe and moderately severe <B>HaemophiliaB> B
Haemophilia, 2014Co-Authors: Shannon Jackson, Ming Yang, Leonard Minuk, Michelle Sholzberg, Robert T. Card, Alfonso Iorio, Jean Stlouis, M.-c. PoonAbstract:Summary From a young age patients with severe and moderately severe FIX deficiency (<B>HaemophiliaB> B) can experience spontaneous or traumatic Bleeding and joint destruction may result. The use of coagulation factor IX concentrate to prevent anticipated Bleeding, as primary or secondary prophylaxis, has Become a common and recommended practice in children. The current practice of using tertiary prophylaxis, in the presence of estaBlished joint arthropathy, in adults with <B>HaemophiliaB> B is not well characterized. This oBservational study was conducted to gain a Better understanding of the recent Canadian experience with tertiary prophylaxis in adults with severe and moderately severe <B>HaemophiliaB> B. Data were collected from all eligiBle adult (≥ 18 years of age) males with Baseline FIX:C ≤ 2% from seven Canadian Hemophilia Treatment centres over a 2-year oBservation period from 2009 to 2011. Thirty-four per cent of the 67 suBjects with moderately severe <B>HaemophiliaB> B were exposed to prophylaxis with the majority as continuous prophylaxis (≥45 weeks year-1). The severe suBgroup (FIX:C < 1%) demonstrated a 52% exposure rate. None had primary prophylaxis exposure in childhood. Eighty-one per cent used once or twice weekly infusion regimens and reported a median annual Bleeding rate of five Bleeds per year versus four Bleeds per year for those using on-demand treatment. Annual median factor utilization for all suBjects using prophylaxis was 196 283 U year-1 compared to 46 361 U year-1 for on demand. Approximately 50% of adults with severe <B>HaemophiliaB> B are using continuous tertiary prophylaxis in Canada, a practice likely to increase which warrants further study.
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Patterns of tertiary prophylaxis in Canadian adults with severe and moderately severe <B>HaemophiliaB> B.
Haemophilia : the official journal of the World Federation of Hemophilia, 2014Co-Authors: Shannon Jackson, Ming Yang, Leonard Minuk, Jean St-louis, Michelle Sholzberg, Robert T. Card, Alfonso Iorio, M.-c. PoonAbstract:Summary From a young age patients with severe and moderately severe FIX deficiency (<B>HaemophiliaB> B) can experience spontaneous or traumatic Bleeding and joint destruction may result. The use of coagulation factor IX concentrate to prevent anticipated Bleeding, as primary or secondary prophylaxis, has Become a common and recommended practice in children. The current practice of using tertiary prophylaxis, in the presence of estaBlished joint arthropathy, in adults with <B>HaemophiliaB> B is not well characterized. This oBservational study was conducted to gain a Better understanding of the recent Canadian experience with tertiary prophylaxis in adults with severe and moderately severe <B>HaemophiliaB> B. Data were collected from all eligiBle adult (≥ 18 years of age) males with Baseline FIX:C ≤ 2% from seven Canadian Hemophilia Treatment centres over a 2-year oBservation period from 2009 to 2011. Thirty-four per cent of the 67 suBjects with moderately severe <B>HaemophiliaB> B were exposed to prophylaxis with the majority as continuous prophylaxis (≥45 weeks year-1). The severe suBgroup (FIX:C
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<B>HaemophiliaB> B dataBase of point mutations and short additions and deletions eighth edition
Nucleic Acids Research, 1998Co-Authors: F. Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of <30 Bp) identified in <B>HaemophiliaB> B patients. The 1713 patient entries are ordered By the nucleotide numBer of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhiBitor and origin of mutation. References to puBlished mutations are given and the laBoratories generating the data are indicated.
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<B>HaemophiliaB> B: DataBase of point mutations and short additions and deletions—eighth edition
Nucleic acids research, 1998Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B: dataBase of point mutations and short additions and deletions, 7th edition.
Nucleic acids research, 1997Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The seventh edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
Francesco Giannelli - One of the best experts on this subject based on the ideXlab platform.
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<B>HaemophiliaB> B: DataBase of point mutations and short additions and deletions—eighth edition
Nucleic acids research, 1998Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B: dataBase of point mutations and short additions and deletions, 7th edition.
Nucleic acids research, 1997Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The seventh edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B (Sixth Edition): A DataBase of Point Mutations and Short Additions and Deletions
Nucleic acids research, 1996Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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First report on UK dataBase of <B>HaemophiliaB> B mutations and pedigrees. UK <B>HaemophiliaB> Centres
Thrombosis and haemostasis, 1994Co-Authors: S Saad, Peter M Green, G. Rowley, L. Tagliavacca, Francesco GiannelliAbstract:In order to oBtain complete success in the carrier and prenatal diagnoses required for genetic counselling in <B>HaemophiliaB> B a new strategy is Being implemented in the UK. This entails the construction of a national confidential dataBase of mutations, pedigrees and haematological data. This will allow the inefficient indirect tests Based on the analysis of DNA polymorphisms to Be aBandoned and direct detection of the gene defect to Be used instead. After two and a half years of nationwide collaBoration, 702 samples have Been collected from 313 families, representing more than half of the UK <B>HaemophiliaB> B families, and 217 mutations have Been characterised. The 141 diagnostic tests so far performed have clearly indicated that the new strategy not only allows virtually 100% diagnostic success, But also rapid results. This work on <B>HaemophiliaB> B may represent a model for other diseases with high mutational heterogeneity.
George G. Brownlee - One of the best experts on this subject based on the ideXlab platform.
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<B>HaemophiliaB> B (Sixth Edition): A DataBase of Point Mutations and Short Additions and Deletions
Nucleic acids research, 1996Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B sixth edition a dataBase of point mutations and short additions and deletions
Nucleic Acids Research, 1996Co-Authors: F. Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of <30 Bp) identified in <B>HaemophiliaB> B patients. The 1380 patient entries are ordered By the nucleotide numBer of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circulation and origin of mutation. References to puBlished mutations are given and the laBoratories generating the data are indicated.
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Towards gene therapy for <B>HaemophiliaB> B using primary human keratinocytes
Nature genetics, 1993Co-Authors: Ann J. Gerrard, David Hudson, George G. Brownlee, Fiona M. WattAbstract:<B>HaemophiliaB> B might Be permanently cured By gene therapy — the introduction of a correct copy of the factor IX gene into the somatic cells of a patient. Here, we have introduced a recomBinant human factor IX cDNA into primary human keratinocytes By means of a defective retroviral vector. In tissue culture, transduced keratinocytes were found to secrete Biologically active factor IX and after transplantation of these cells into nude mice, human factor IX was detected in the Bloodstream in small quantities for one week. This is the first demonstration of a therapeutic protein reaching the Bloodstream from transduced primary keratinocytes. This may have implications for the treatment of <B>HaemophiliaB> B and other disorders.
Peter M Green - One of the best experts on this subject based on the ideXlab platform.
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<B>HaemophiliaB> B dataBase of point mutations and short additions and deletions eighth edition
Nucleic Acids Research, 1998Co-Authors: F. Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of <30 Bp) identified in <B>HaemophiliaB> B patients. The 1713 patient entries are ordered By the nucleotide numBer of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhiBitor and origin of mutation. References to puBlished mutations are given and the laBoratories generating the data are indicated.
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<B>HaemophiliaB> B: DataBase of point mutations and short additions and deletions—eighth edition
Nucleic acids research, 1998Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B: dataBase of point mutations and short additions and deletions, 7th edition.
Nucleic acids research, 1997Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The seventh edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B sixth edition a dataBase of point mutations and short additions and deletions
Nucleic Acids Research, 1996Co-Authors: F. Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of <30 Bp) identified in <B>HaemophiliaB> B patients. The 1380 patient entries are ordered By the nucleotide numBer of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circulation and origin of mutation. References to puBlished mutations are given and the laBoratories generating the data are indicated.
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<B>HaemophiliaB> B (Sixth Edition): A DataBase of Point Mutations and Short Additions and Deletions
Nucleic acids research, 1996Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
R Schwaab - One of the best experts on this subject based on the ideXlab platform.
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<B>HaemophiliaB> B dataBase of point mutations and short additions and deletions eighth edition
Nucleic Acids Research, 1998Co-Authors: F. Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of <30 Bp) identified in <B>HaemophiliaB> B patients. The 1713 patient entries are ordered By the nucleotide numBer of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhiBitor and origin of mutation. References to puBlished mutations are given and the laBoratories generating the data are indicated.
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<B>HaemophiliaB> B: DataBase of point mutations and short additions and deletions—eighth edition
Nucleic acids research, 1998Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The eighth edition of the <B>HaemophiliaB> B dataBase (http://www.umds.ac. uk/molgen/haemBdataBase.htm ) lists in an easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B: dataBase of point mutations and short additions and deletions, 7th edition.
Nucleic acids research, 1997Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, Mauro Silverio FigueiredoAbstract:The seventh edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
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<B>HaemophiliaB> B sixth edition a dataBase of point mutations and short additions and deletions
Nucleic Acids Research, 1996Co-Authors: F. Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of <30 Bp) identified in <B>HaemophiliaB> B patients. The 1380 patient entries are ordered By the nucleotide numBer of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circulation and origin of mutation. References to puBlished mutations are given and the laBoratories generating the data are indicated.
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<B>HaemophiliaB> B (Sixth Edition): A DataBase of Point Mutations and Short Additions and Deletions
Nucleic acids research, 1996Co-Authors: Francesco Giannelli, Akira Yoshioka, M.-c. Poon, Peter M Green, Steve S Sommer, Michael Ludwig, R Schwaab, Pieter H Reitsma, M Goossens, George G. BrownleeAbstract:The sixth edition of the <B>HaemophiliaB> B dataBase lists in easily accessiBle form all known factor IX mutations due to small changes (Base suBstitutions and short additions and/or deletions of
