A. Guilliatt

发表

Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict

J. Oldenburg, O. el-Maarri, M. D. Williams, 2015, Haemophilia : the official journal of the World Federation of Hemophilia.

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM‐1VWD study

J. Goudemand, S. Lethagen, J. Eikenboom, 2009, Journal of Thrombosis and Haemostasis.

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

J. Goudemand, C. Halldén, S. Lethagen, 2007, Blood.

Distinguishing between type 2B and pseudo‐von Willebrand disease and its clinical importance

F. Hill, A. Guilliatt, J. Wilde, 2006, British journal of haematology.

An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease

P. Collins, C. Hay, D. Keeling, 2006, Thrombosis and Haemostasis.

A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand’s disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation

M. Jazebi, F. Ala, F. Hill, 2010, Haemophilia : the official journal of the World Federation of Hemophilia.

Characterisation of Type 2N von Willebrand Disease Using Phenotypic and Molecular Techniques

M. Makris, F. Preston, A. Goodeve, 1996, Thrombosis and Haemostasis.

Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease.

K. Pasi, F. Hill, M. D. Williams, 2001, Blood.

Inherited and de novo von Willebrand disease ‘Vicenza’ in UK families with the R1205H mutation: diagnostic pitfalls and new insights

P. Collins, F. Hill, A. Cumming, 2006, British journal of haematology.

A New Candidate Missense Mutation (Leu 1657 Ile) in an Apparently Asymptomatic Type 2A (Phenotype IIA) von Willebrand Disease Family

F. Hill, B. Theophilus, A. Guilliatt, 2000, Thrombosis and Haemostasis.

Agarose and polyacrylamide gel electrophoresis.

A. Guilliatt, 2002, Methods in molecular biology.

Assembly of multimeric von Willebrand factor directs sorting of P-selectin.

J. V. van Mourik, I. Peake, A. Guilliatt, 2000, Arteriosclerosis, thrombosis, and vascular biology.

Deletions and duplications in the factor VIII gene identified using multiplex ligation‐dependent probe amplification

J. Motwani, M. Williams, B. Theophilus, 2011, Journal of thrombosis and haemostasis : JTH.

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

F. Hill, A. Guilliatt, C. Millar, 2008, Thrombosis and Haemostasis.