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Journal Articles

Phenotype Analysis and Clinical Management in a Large Family with a Novel Truncating Mutation in RASGRP2 , the Caldag-GEFI Encoding Gene

Amrita Desai, MD MPH, Wenche Jy, PhD, Wolfgang Bergmeier, PhD, Mathias Canault, PhD, Marie-Christine Alessi, MD PhD, Paquita Nurden, MD PhD, Yeon-Soong Ahn, MD, Alan T. Nurden, PhD

Blood (2016) 128 (22): 3713.

https://doi.org/10.1182/blood.V128.22.3713.3713

Published: 2016

Journal Articles

Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice

Simon Stritt, Markus Bender, Paquita Nurden, MD PhD, Judith van Eeuwijk, Barbara Zieger, Prof, Karim Kentouche, MD, Harald Schulze, Prof, Henner Morbach, MD, David Stegner, PhD, Katrin G Heinze, PhD, Sebastian Dütting, PhD, Shuchi Gupta, PhD, Walter Witke, Prof, Hervé Falet, PhD, Alain Fischer, Prof, John H. Hartwig, Prof, Bernhard Nieswandt, Prof

Blood (2014) 124 (21): 4200.

https://doi.org/10.1182/blood.V124.21.4200.4200

Published: 2014

Journal Articles

A Novel β3 Intracytoplasmic Domain Mutation Associated with Macrothrombocytopenia: Structural Analysis in Comparison with Previously Reported Cases

Paquita Nurden, MD PhD, Ernest Turro, PhD, Xavier Pillois, PhD, Daniel Greene, PhD, Willem Ouwehand, MD PhD, Alan Nurden, PhD

Blood (2014) 124 (21): 1454.

https://doi.org/10.1182/blood.V124.21.1454.1454

Published: 2014

Journal Articles

Defects in Filamin A (FLNa) in Women with X-Linked Filaminopathies: Abnormalities in Platelet Production and Platelet Function

Paquita Nurden, MD, PhD, Marijke Bryckaert, PhD, Eliane Berrou, PhD, Frédéric Adam, PhD, Jean-Marie Daniel Lamazière, PhD, Anne-Cécile Pons, PhD, Cyril Goizet, MD, PhD, William Vainchenker, MD, PhD, Alan T. Nurden, PhD, Najet Debili, PhD

Blood (2011) 118 (21): 1152.

https://doi.org/10.1182/blood.V118.21.1152.1152

Published: 2011

Journal Articles

NEW FINDINGS From the FRENCH COHORT of MYH9-RELATED DISORDERS: PHENOTYPE PECULIARITIES and GENOTYPE NOVELTIES on Behalf of the National French Reference Center on Inherited Platelet Disorders (CRPP)

Béatrice Saposnik, PhD, Sylvie Binard, Alan T. Nurden, PhD, Paquita Nurden, MD, PhD, Nicole Schlegel, MD, PhD

Blood (2011) 118 (21): 1155.

https://doi.org/10.1182/blood.V118.21.1155.1155

Published: 2011

Journal Articles

Abnormal Proplatelet Formation and Myosin Activation Status in Patients with MYH9-Related Syndrome

Yolande Chen, MD, Siham Boukour, PhD, Paquita Nurden, MD, PhD, Ababacar Seye, Olivier Bluteau, PhD, Alberta Palazzo, Yunhua Chang, PhD, Larissa Lordier, PhD, Remi Favier, MD, Nicole Schlegel, MD, PhD, Anne Galy, PharmD, PhD, Alan T. Nurden, PhD, Hana Raslova, PhD, William Vainchenker, MD, PhD, Najet Debili, PhD

Blood (2011) 118 (21): 4826.

https://doi.org/10.1182/blood.V118.21.4826.4826

Published: 2011

Journal Articles

De Novo Synthesis & Storage of Human Factor VIII In Platelets Reduces Bleeding In Canine Hemophilia A

Lily M. Du, MD, Helen W.G. Franck, BS, Elizabeth P. Merricks, PhD, Paquita Nurden, MD, Eric S. Jensen, DVM, Sandra L. Haberichter, PhD, Troy B. Hawkins, PhD, Paula M. Jacobi, BS, Juan Fang, MD, Timothy C. Nichols, MD, Sevasti B. Koukouritaki, PhD, Qizhen Shi, MD, PhD, Robert R. Montgomery, MD, Kenneth Cornetta, MD, Alan T. Nurden, PhD, David A. Wilcox, PhD

Blood (2010) 116 (21): 2198.

https://doi.org/10.1182/blood.V116.21.2198.2198

Published: 2010

Journal Articles

In Vitro Knock-Down of Myh9 Leads to a Myh9-Related Disorder Phenotype in Human Megakaryocytes.

Yolande Chen, MD, Siham Boukour, PhD, Monia Romdhane, Ababacar Seye, PhD, Olivier Bluteau, PhD, Larissa Lordier, PhD, Yunhua Chang, PhD, Anne Galy, D., Pharm, and, PhD, Rémi Favier, MD, Paquita Nurden, MD, Hana Raslova, PhD, William Vainchenker, MD, PhD, Najet Debili, PhD

Blood (2009) 114 (22): 4596.

https://doi.org/10.1182/blood.V114.22.4596.4596

Published: 2009

Journal Articles

High Mortality in Mice with Platelets Expressing Integrin αIIbβ3 Lockedin Its High Affinity State.

David A. Wilcox, PhD, Juan Fang, MD, Paula North, MD, PhD, Paquita Nurden, MD, Alan T. Nurden, PhD, Nathalie Valentin, PhD

Blood (2008) 112 (11): 1832.

https://doi.org/10.1182/blood.V112.11.1832.1832

Published: 2008

Journal Articles

Abnormal Large Platelets Are Associated Not Only with von Willebrand Disease (VWD) Type 2B (Including Type 2B/1 New York) but Also with Severe Type 3: A Potential Role for von Willebrand Factor (VWF) in Megakaryocytopoiesis.

Paquita Nurden, MD, PhD, Alan T. Nurden, PhD, Jocelyne Enouf, PhD, Silvia La Marca, Luciano Baronciani, Augusto B. Federici, MD, PhD

Blood (2007) 110 (11): 101.

https://doi.org/10.1182/blood.V110.11.101.101

Published: 2007

Journal Articles

Normal Presence of Tissue Inhibitors of Matrix Metalloproteinases in Platelets of Patients with the Gray Platelet Syndrome Suggests a Novel Organization for These Secreted Proteins.

Julien Villeneuve, Anna Block, PhD, Caroline Le Bousse, PhD, Sebastien Lepreux, MD, Jean-Max Pasquet, PhD, Paquita Nurden, MD, PhD, Jean Ripoche, MD, Alan T. Nurden, PhD

Blood (2007) 110 (11): 2104.

https://doi.org/10.1182/blood.V110.11.2104.2104

Published: 2007

Journal Articles

Deletion of Two Contiguous Genes, Platelet GPIbβ (Glycoprotein Ibβ) and Septin SEPT5, in a Boy with Bernard-Soulier Syndrome and Developmental Delay: A Possible New Contiguous Gene Syndrome.

Ingrid Bartsch, PhD, Ina Hainmann, MD, Susanne Bläser, PhD, Anna Pavlova, MD, Johannes Oldenburg, MD, Anja Busse, Francois Lanza, PhD, Paquita Nurden, MD, PhD, Andrea Superti-Furga, MD, Barbara Zieger, MD

Blood (2006) 108 (11): 1097.

https://doi.org/10.1182/blood.V108.11.1097.1097

Published: 2006

Journal Articles

Heterogeneity in the Gray Platelet Syndrome: Variable Expression of the TREM Family Member, TLT-1, in Platelets of Patients of Two Unrelated Families.

Alan T. Nurden, PhD, Paquita Nurden, MD, PhD, Emilse Bermejo, Anthony V. Washington, PhD, Daniel W. McVicar, PhD

Blood (2006) 108 (11): 1101.

https://doi.org/10.1182/blood.V108.11.1101.1101

Published: 2006

Journal Articles

Severe Thrombocytopenia with Impaired Megakaryocytopoiesis in a Family with von Willebrand Disease Type 2B.

Paquita Nurden, MD, PhD, Najet Debili, PhD, William Vainchenker, MD, PhD, Jean-Max Pasquet, PhD, Regis Bobe, PhD, Raymonde Bredoux, PhD, Alan T. Nurden, PhD, Jocelyne Enouf, PhD

Blood (2005) 106 (11): 733.

https://doi.org/10.1182/blood.V106.11.733.733

Published: 2005

NARROW

Phenotype Analysis and Clinical Management in a Large Family with a Novel Truncating Mutation in RASGRP2 , the Caldag-GEFI Encoding Gene

Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice

A Novel β3 Intracytoplasmic Domain Mutation Associated with Macrothrombocytopenia: Structural Analysis in Comparison with Previously Reported Cases

Defects in Filamin A (FLNa) in Women with X-Linked Filaminopathies: Abnormalities in Platelet Production and Platelet Function

NEW FINDINGS From the FRENCH COHORT of MYH9-RELATED DISORDERS: PHENOTYPE PECULIARITIES and GENOTYPE NOVELTIES on Behalf of the National French Reference Center on Inherited Platelet Disorders (CRPP)

Abnormal Proplatelet Formation and Myosin Activation Status in Patients with MYH9-Related Syndrome

De Novo Synthesis & Storage of Human Factor VIII In Platelets Reduces Bleeding In Canine Hemophilia A

In Vitro Knock-Down of Myh9 Leads to a Myh9-Related Disorder Phenotype in Human Megakaryocytes.

High Mortality in Mice with Platelets Expressing Integrin αIIbβ3 Lockedin Its High Affinity State.

Abnormal Large Platelets Are Associated Not Only with von Willebrand Disease (VWD) Type 2B (Including Type 2B/1 New York) but Also with Severe Type 3: A Potential Role for von Willebrand Factor (VWF) in Megakaryocytopoiesis.

Normal Presence of Tissue Inhibitors of Matrix Metalloproteinases in Platelets of Patients with the Gray Platelet Syndrome Suggests a Novel Organization for These Secreted Proteins.

Deletion of Two Contiguous Genes, Platelet GPIbβ (Glycoprotein Ibβ) and Septin SEPT5, in a Boy with Bernard-Soulier Syndrome and Developmental Delay: A Possible New Contiguous Gene Syndrome.

Heterogeneity in the Gray Platelet Syndrome: Variable Expression of the TREM Family Member, TLT-1, in Platelets of Patients of Two Unrelated Families.

Severe Thrombocytopenia with Impaired Megakaryocytopoiesis in a Family with von Willebrand Disease Type 2B.

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American Society of Hematology

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American Society of Hematology

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