Glanzmann thrombasthenia

Por Nurden, Alan T
Publicado em 2006

High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus

Por Nurden, Alan T., Nurden, Paquita
Publicado no Haematologica (2018)

Is the mysterious platelet receptor GPV an unsuspected major target for platelet autoantibodies?

Por Nurden, Paquita, Nurden, Alan T
Publicado no Haematologica (2019)

Inherited thrombocytopenias: history, advances and perspectives

Por Nurden, Alan T., Nurden, Paquita
Publicado no Haematologica (2020)

Glanzmann Thrombasthenia: State of the Art and Future Directions

Por Nurden, Alan T, Pillois, Xavier, Wilcox, David A.
Publicado em 2013

Clinical utility gene card for: Glanzmann thrombasthenia

Por Fiore, Mathieu, Nurden, Alan T, Nurden, Paquita, Seligsohn, Uri
Publicado em 2012

Clinical utility gene card for: Glanzmann thrombasthenia

Por Fiore, Mathieu, Nurden, Alan T, Nurden, Paquita, Seligsohn, Uri
Publicado em 2012

Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia

Por Nurden, Alan, Mercié, Patrick, Zely, Pascal, Nurden, Paquita
Publicado em 2012

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia

Por Pillois, Xavier, Peters, Pierre, Segers, Karin, Nurden, Alan T.
Publicado no Mol Genet Genomic Med (2018)

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy

Por Nurden, Paquita, Stritt, Simon, Favier, Remi, Nurden, Alan T.
Publicado no Haematologica (2020)

An intracytoplasmic β3 Leu718 deletion in a patient with a novel platelet phenotype

Por Nurden, Paquita, Bordet, Jean-Claude, Pillois, Xavier, Nurden, Alan T.
Publicado no Blood Adv (2017)

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

Por Fiore, Mathieu, Pillois, Xavier, Nurden, Paquita, Nurden, Alan T, Austerlitz, Frédéric
Publicado em 2011

The Nbeal2(−/−) mouse as a model for the gray platelet syndrome

Por Deppermann, Carsten, Nurden, Paquita, Nurden, Alan T, Nieswandt, Bernhard, Stegner, David
Publicado em 2013

Immunochemical Evidence for Protein Abnormalities in Platelets from Patients with Glanzmann's Thrombasthenia and Bernard-Soulier Syndrome

Por Hagen, Inger, Nurden, Alan, Bjerrum, Ole Jannik, Solum, Nils Olav, Caen, Jacques
Publicado em 1980

Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene

Por Nurden, Paquita, Nurden, Alan T, La Marca, Silvia, Punzo, Margherita, Baronciani, Luciano, Federici, Augusto B.
Publicado em 2009

Molecular Dynamics Analysis of a Novel β3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting αIIbβ3 and αvβ3 Expression

Por Laguerre, Michel, Sabi, Essa, Daly, Martina, Stockley, Jacqueline, Nurden, Paquita, Pillois, Xavier, Nurden, Alan T.
Publicado em 2013

Phenotypic Heterogeneity in the Gray Platelet Syndrome Extends to the Expression of TREM Family Member, TLT-1

Por Nurden, Alan T., Nurden, Paquita, Bermejo, Emilsé, Combrié, Robert, McVicar, Daniel W., Washington, A. Valance
Publicado em 2008

C560Rβ3 caused platelet integrin αIIbβ3 to Bind Fibrinogen Continuously yet Resulted in a Severe Bleeding Syndrome and Increased Murine Mortality

Por Fang, Juan, Nurden, Paquita, North, Paula, Nurden, Alan T., Du, Lily M., Valentin, Nathalie, Wilcox, David A.
Publicado em 2013

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

Por Saposnik, Béatrice, Binard, Sylvie, Fenneteau, Odile, Nurden, Alan, Nurden, Paquita, Hurtaud-Roux, Marie-Françoise, Schlegel, Nicole
Publicado em 2014

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

Por Bury, Loredana, Zetterberg, Eva, Leinøe, Eva B., Falcinelli, Emanuela, Marturano, Alessandro, Manni, Giorgia, Nurden, Alan T., Gresele, Paolo
Publicado no Haematologica (2018)