Suchergebnisse - "Nurden, Paquita"

PubPharm (10)

1

A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia

enthalten in: Journal of thrombosis and haemostasis : JTH | 2019

von Guillet, B. | Bayart, S. | Pillois, X. | +3

2

Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules

enthalten in: American journal of hematology | 2018

von Favier, M. | Bordet, J. | Favier, R. | +8

3

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation

enthalten in: Arteriosclerosis, thrombosis, and vascular biology | 2017

von Berrou, E. | Adam, F. | Lebret, M. | +11

4

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia : Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort

enthalten in: Human mutation | 2015

von Nurden, A. | Pillois, X. | Fiore, M. | +23

5

Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression

enthalten in: PloS one | 2013

von Laguerre, M. | Sabi, E. | Daly, M. | +4

6

Understanding the genetic basis of Glanzmann thrombasthenia : implications for treatment

enthalten in: Expert review of hematology | 2012

von Nurden, A. | Pillois, X. | Nurden, P.

7

Clinical utility gene card for : Glanzmann thrombasthenia

enthalten in: European journal of human genetics : EJHG | 2012

von Fiore, M. | Nurden, A. | Nurden, P. | +1

ErratumIn: Eur J Hum Genet. 2012 Oct;20(10):1102

8

Glanzmann thrombasthenia : a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

enthalten in: Blood | 2011

von Nurden, A. | Fiore, M. | Nurden, P. | +1

9

Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?

enthalten in: Platelets | 2011

von Nurden, A. | Fiore, M. | Nurden, P. | +2

10

A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia

enthalten in: Platelets | 2010

von Nurden, A. | Fernandes, H. | Fiore, M. | +7

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