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radial aplasia-thrombocytopenia syndrome
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Journal Articles

Evaluation of Platelet Parameters in Children

Ralf Knoefler, MD, Stefanie Hackel, Julia Staechele, MD, Judith Lohse, MD, Ursula Range, Meinolf Suttorp, PhD MD, Oliver Tiebel, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 4842.
https://doi.org/10.1182/blood.V130.Suppl_1.4842.4842
Published: 2017
Journal Articles

Romiplostim (Nplate®) and Oprelvekin (Neumega®) Correct Thrombocytopenia in TAR Syndrome (Thrombocytopenia with Absent Radii)

Nicolas Gallastegui, MD, Pamela B. Dudkiewicz, DNP, ARNP, Wenche Jy, PhD, Lawrence L. Horstman, BS, Yeon S. Ahn, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 4953.
https://doi.org/10.1182/blood.V130.Suppl_1.4953.4953
Published: 2017
Journal Articles

Mediator Kinase Inhibition Triggers a Phenotypic Switch from Neonatal to Adult-like Megakaryopoiesis

Zhi-Jian Liu, PhD, Ioana Nitulescu, Henry Pelish, PhD, Matthew Shair, PhD, Martha Sola-Visner, MD
Journal: Blood
Blood (2015) 126 (23): 1171.
https://doi.org/10.1182/blood.V126.23.1171.1171
Published: 2015
Journal Articles

Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes

Ibrahim Ghemlas, Dr., Hongbing Li, Dr., Bozana Zlateska, Robert J. Klaassen, MD FRCP, Conrad V Fernandez, FRCPC, BSc, MD, Rochelle Yanofsky, MD FRCP(C), John K. Wu, MBBS, MSc, FRCPC, Yves Pastore, Mariana Silva, Dr., Jeffrey H. Lipton, MD PhD, Josse Brossard, MD FRCP(C), Michon Bruno, MD FRCP(C), Sharon Abish, MD, MacGregor Steele, MD FRCP(C), Roona Sinha, MD FRCP(C), Mark J. Belletrutti, MD MSc, Vicky R Breakey, BSc, MD MD FRCPC, Lawrence Jardine, MD BA, FRCPC, Lisa Goodyear, MD FRCPC, Lillian Sung, MD PhD, Santhosh Dhanraj, Emma Reble, Amanda Wagner, Joseph Beyene, PhD, Peter Ray, PhD, Stephen Meyn, Michaela Cada, MD FRCPC, MPH, Yigal Dror, MD FRCP(C)
Journal: Blood
Blood (2014) 124 (21): 257.
https://doi.org/10.1182/blood.V124.21.257.257
Published: 2014
Journal Articles

Molecular Characterization Of a Patient With Thrombocytopenia-Absent Radii (TAR) Syndrome and Diffuse Langerhans Cell Histiocytosis (LCH): Novel Genetic Findings

Aakanksha Prasad Asija, MD, MPH, Alina E. Dulau Florea, MD, Xianguo Kong, MD, Douglass A. Drelich, MD, Srikanth Nagalla, MD, MS, Steven E. McKenzie, MD, PhD
Journal: Blood
Blood (2013) 122 (21): 2326.
https://doi.org/10.1182/blood.V122.21.2326.2326
Published: 2013
Journal Articles

A HoxD11 Homeobox Gene Mutation Associated With Congenital Absent Radius But Without The Thrombocytopenia Of The TAR Syndrome Or a HoxA11 Mutation

Roger A. Fleischman, MD, PhD
Journal: Blood
Blood (2013) 122 (21): 4837.
https://doi.org/10.1182/blood.V122.21.4837.4837
Published: 2013
Journal Articles

Effect of Single Nucleotide Polymorphism in the Gene RBM8A Together with the Microdeletion 1q21 in Thrombocytopenia-Absent Radii Syndrome.

Harald Schulze, PhD, Cornelis A Albers, Gabriele Strauss, Janine Fiedler, Markus Schmugge, Willem H Ouwehand, Kathleen Freson, Ruth Newbury-Ecob, Cedric Ghaevert, PhD
Journal: Blood
Blood (2012) 120 (21): 2372.
https://doi.org/10.1182/blood.V120.21.2372.2372
Published: 2012
Journal Articles

Radioulnar Synostosis-Hematology (RUS-H) Syndrome: Description of the New Syndrome and Comparison to Similar Syndromes

Evangelista E Jessie, BA, Mary M. Ruisi, MD, Daniel Green, MD, Rachel Burt, PhD, Jaclyn Davis, MD, Regina A. Macatangay, MD, Farid Boulad, MD, Shivani Shah, MBBS, Brenda Oiyemhonlan, MD, MPH, MHSA, Benjamin T. Kile, PhD, James B Bussel, MD
Journal: Blood
Blood (2012) 120 (21): 1100.
https://doi.org/10.1182/blood.V120.21.1100.1100
Published: 2012
Journal Articles

The Abrogated Thrombopoietin (TPO) Signal Transduction In Pediatric Patients Suffering From Thrombocytopenia-Absent Radii Syndrome Is Restored In Adult Patients, Suggesting An Additional, c-Mpl-Jak2-Independent Mechanism for Platelet Biogenesis.

Janine Fiedler, Gabriele Strauss, Martin Wannack, Silke Fleischhauer, Kerstin Seidel, Eva Klopocki, Stefan Mundlos, Markus Schmugge, MD, Harald Schulze, PhD
Journal: Blood
Blood (2010) 116 (21): 1561.
https://doi.org/10.1182/blood.V116.21.1561.1561
Published: 2010
Journal Articles

Radioulnar Synostosis and Its Hematology and Genetic Associations

Mary M. Ruisi, MD, Evangelista Jessica, BA, Daniel Green, MD, Brenda Oiyemhonlan, BS, Shivani Shah, MBBS, Benjamin T Kile, Rachel Burt, PhD, Alexis Thompson, MD, MPH, James B. Bussel, MD
Journal: Blood
Blood (2010) 116 (21): 2521.
https://doi.org/10.1182/blood.V116.21.2521.2521
Published: 2010
Journal Articles

Splenectomized Patients Have Reduced CD27 + Memory B Cells but Protective Antibody Responses to Pneumococcal Vaccination.

Heather A. Wasserstrom, Charlotte Cunningham-Rundles, Lony C.L. Lim, Nadia T. Guerrero, Megan H. Wissert, Lin Radigan, James B. Bussel
Journal: Blood
Blood (2004) 104 (11): 3025.
https://doi.org/10.1182/blood.V104.11.3025.3025
Published: 2004
Journal Articles

Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome

Rémi Letestu, Natacha Vitrat, Aline Massé, Jean-Pierre Le Couedic, Vladimir Lazar, Philippe Rameau, Françoise Wendling, Jacqueline Vuillier, Patrick Boutard, Emmanuel Plouvier, Mireille Plasse, Rémi Favier, William Vainchenker, Najet Debili
Journal: Blood
Blood (2000) 95 (5): 1633–1641.
https://doi.org/10.1182/blood.V95.5.1633.005k25_1633_1641
Published: 2000