Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Said Enayat"'
Publikováno v:
Haemophilia. 18:e340-e346
In Haemophilia A (HA), the deficiency in coagulation factor VIII is caused by mutations in the F8 gene. In the past, HA carrier detection in Iran used to be carried out by tracking polymorphic DNA markers - a technical strategy with poor efficacy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0c4af757cc56ef918a77ee96ec19ffb
https://doi.org/10.1111/j.1365-2516.2011.02708.x
https://doi.org/10.1111/j.1365-2516.2011.02708.x
Publikováno v:
Haemophilia. 14:1099-1111
von Willebrand disease (VWD) is a common autosomally inherited bleeding disorder associated with mucosal or trauma-related bleeding in affected individuals. VWD results from a quantitative or qualitative deficiency of von Willebrand factor (VWF), a g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d6d0400fd78bda2d1f9dcc50817f248
https://doi.org/10.1111/j.1365-2516.2008.01813.x
https://doi.org/10.1111/j.1365-2516.2008.01813.x
Autor:
Charles R. M. Hay, Frank Hill, Andrea Guilliatt, Peter William Collins, Pamela Grundy, William Lester, Derrick John Bowen, A. M. Cumming, Stephen Keeney, Said Enayat, John Pasi, Paula H B Bolton-Maggs, David Keeling
Publikováno v:
Thrombosis and Haemostasis. 96:630-641
SummaryForty families diagnosed by UK centres to have type 1 VWD were recruited. Following review, six families were re-diagnosed to have type 2 VWD, one to have a platelet storage pool disorder, and one family was determined to be unaffected. Direct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fb43623c88217b1da3de19baf9c78c
https://doi.org/10.1160/th06-07-0383
https://doi.org/10.1160/th06-07-0383
Publikováno v:
British Journal of Haematology. 119:176-179
There is increasing evidence that congenital thrombotic thrombocytopenic purpura (TTP) is caused by an absolute deficiency of von Willebrand factor-cleaving protease. The recent identification of this protease and the development of assays for its de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0087352efeca0b7ccb41d0009c7c5de
https://doi.org/10.1046/j.1365-2141.2002.03809.x
https://doi.org/10.1046/j.1365-2141.2002.03809.x
Autor:
Dale Owens, Christine A. Lee, Ioana C. Nitu-Whalley, M. Said Enayat, K. John Pasi, Anne Riddell, P. Vincent Jenkins, Stephen J. Perkins
Publikováno v:
Thrombosis and Haemostasis. 84:998-1004
SummaryIn order to investigate the possibility that qualitative type 2 defects in von Willebrand factor (VWF) occurred in patients previously diagnosed with quantitative type 1 von Willebrand disease (VWD), the phenotypes and genotypes were reanalyse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8dbc2227fbc0f4411aad78c4823967d
https://doi.org/10.1055/s-0037-1614162
https://doi.org/10.1055/s-0037-1614162
Autor:
Margareth C. Ozelo, David Lillicrap, Alexander Hamilton, Emmanuel J. Favaloro, Colleen Notley, Juan Pablo Frontroth, Maha Othman, Anne Angelillo-Scherrer, Fariba Baghaei, Jayne Leggo, Said Enayat, Hannah Brown
Publikováno v:
Thrombosis and haemostasis. 105(3)
SummaryLess than 50 patients are reported with platelet type von Willebrand disease (PT-VWD) worldwide. Several reports have discussed the diagnostic challenge of this disease versus the closely similar disorder type 2B VWD. However, no systematic st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e2f1e1e7e13cb3dde0920ccd9ad53d
https://pubmed.ncbi.nlm.nih.gov/21301777
https://pubmed.ncbi.nlm.nih.gov/21301777
Autor:
Andrea Guilliatt, Said Enayat, Frank Hill, William Lester, Carolyn M. Millar, Tony Cumming, Peter William Collins, Pamela Grundy
Publikováno v:
Thrombosis and haemostasis. 100(4)
Is VWF R924Q a benign polymorphism, a marker of a null allele or a factor VIII-binding defect? The debate continues with results from the UKHCDO VWD study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c34d7461cdf87c494d53eb45e45bec78
https://pubmed.ncbi.nlm.nih.gov/19572084
https://pubmed.ncbi.nlm.nih.gov/19572084
Publikováno v:
Thrombosis and haemostasis. 97(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::83865db30f981e8851c717d4c4a6d024
https://pubmed.ncbi.nlm.nih.gov/17200787
https://pubmed.ncbi.nlm.nih.gov/17200787
Autor:
Sara Willoughby, A. M. Cumming, Peter William Collins, Frank Hill, Gurcharan K. Surdhar, Pam Grundy, Said Enayat, Andrea M. Guilliatt, William Lester, Jonathan T. Wilde
Publikováno v:
British journal of haematology. 135(1)
von Willebrand disease (VWD) caused by the R1205H mutation has distinct and reproducible clinical and laboratory features. This report describes the phenotypic and molecular investigation of seven kindreds with VWD Vicenza R1205H. All affected indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832676f1c6446367771efce6f7798d19
https://pubmed.ncbi.nlm.nih.gov/16925796
https://pubmed.ncbi.nlm.nih.gov/16925796
Autor:
M. Said Enayat
Publikováno v:
Encyclopedia of Medical Genomics and Proteomics ISBN: 0203997352
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3aa59c3d7ca5ca728ec0f527225159f3
https://doi.org/10.3109/9780203997352.265
https://doi.org/10.3109/9780203997352.265
