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Journal Articles

Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia

Paolo Simioni, Stefano Cagnin, Francesca Sartorello, Gabriele Sales, Luca Pagani, Cristiana Bulato, Sabrina Gavasso, Francesca Nuzzo, Francesco Chemello, Claudia M. Radu, Daniela Tormene, Luca Spiezia, Tilman M. Hackeng, Elena Campello, Elisabetta Castoldi

Blood (2021) 137 (17): 2383–2393.

https://doi.org/10.1182/blood.2020008168

Published: 2021

Includes: Supplemental data

Journal Articles

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Molly S. Hein, Lea Coon, MS, LCGC, Tavanna R. Porter, MS, LCGC, Rong He, MD, Michelle E. Savedra, MT(ASCP), Laura J. Train, BS, Linnea M. Baudhuin, PhD, Andre M. Oliveira, MD PhD, Phuong L. Nguyen, MD, James D. Hoyer, MD, Aruna Rangan, MD, Jennifer L. Oliveira, MD

Blood (2019) 134 (Supplement_1): 2228.

https://doi.org/10.1182/blood-2019-125691

Published: 2019

Journal Articles

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Caterina Marconi, Christian A. Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L. Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci

Blood (2019) 133 (12): 1346–1357.

https://doi.org/10.1182/blood-2018-07-859496

Published: 2019

Includes: Supplemental data

Journal Articles

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

Reinhard Schneppenheim, Natalie Hellermann, Maria A. Brehm, Ulrike Klemm, Tobias Obser, Volker Huck, Stefan W. Schneider, Cécile V. Denis, Alexander Tischer, Matthew Auton, Winfried März, Emma-Ruoqi Xu, Matthias Wilmanns, Rainer B. Zotz

Blood (2019) 133 (4): 356–365.

https://doi.org/10.1182/blood-2018-04-843425

Published: 2019

Includes: Multimedia, Supplemental data

Journal Articles

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Fernanda Gutierrez-Rodrigues, PhD, Flávia S Donaires, PhD, André Pinto, Alana Vicente, MD, Laura Dillon, PhD, Diego V Clé, MDPhD, Bárbara Santana, Maria del Pilar Fernandez Ibanez, Danielle M. Townsley, MD MSc, Sachiko Kajigaya, PhD, Christopher S. Hourigan, DPhil FACP FRCP, James N. Cooper, MD, Rodrigo T. Calado, MD PhD, Neal S. Young, MD

Blood (2018) 132 (Supplement 1): 539.

https://doi.org/10.1182/blood-2018-99-115430

Published: 2018

Journal Articles

Gene Heterogenicity Diagnosis on Children with Complicated Immunological and Hematological Abnormalities

Chunfu Li, MD, Haixia Guo, MD PhD

Blood (2017) 130 (Supplement 1): 4946.

https://doi.org/10.1182/blood.V130.Suppl_1.4946.4946

Published: 2017

Journal Articles

A Novel Dual Monoclonal Sandwich ELISA for Human Erythroferrone

Huiling Han, MD, Keith Westerman, BS, Vaughn Ostland, PhD, Patrick Gutschow, MS, Gordana Olbina, PhD, Jacqueline da Silva Guimarães, PhD, Juçara Gastaldi Cominal, M.Sc, Ana Maria de Souza, PhD, Ana Cristina Silva Pinto, MD, Stefano Rivella, PhD, Yelena Ginzburg, MD, Mark D. Fleming, MD DPhil, Mark Westerman, PhD

Blood (2016) 128 (22): 1272.

https://doi.org/10.1182/blood.V128.22.1272.1272

Published: 2016

Journal Articles

Clinical Exome Sequencing Unravels New Disease Causing Mutations in Myeloproliferative Neoplasms (MPNs): A Pilot Study in Patients from the State of Qatar

Mohamed A. Yassin, MBBS, MSc, CABM, FACP, Nader I Al-Dewik, BSc, MSc, PhD

Blood (2016) 128 (22): 5520.

https://doi.org/10.1182/blood.V128.22.5520.5520

Published: 2016

Journal Articles

Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia

Katsumasa Kitamura, MD, Yusuke Okuno, MD PhD, Kenichi Yoshida, MD PhD, Masashi Sanada, MD PhD, Yuichi Shiraishi, MD PhD, Hideki Muramatsu, MD PhD, Ryoji Kobayashi, MD PhD, Satoru Miyano, MD PhD, Seiji Kojima, MD PhD, Seishi Ogawa, MD PhD, Shinji Kunishima, PhD

Blood (2015) 126 (23): 75.

https://doi.org/10.1182/blood.V126.23.75.75

Published: 2015

Journal Articles

ATP11C Encodes a Major Flippase in Human Erythrocyte and Its Genetic Defect Causes Congenital Non-Spherocytic Hemolytic Anemia

Nobuto Arashiki, PhD, Yuichi Takakuwa, MD PhD, Hiromi Ogura, MD PhD, Taiju Utsugisawa, MDPhD, Satoru Miyano, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD, Shouichi Ohga, MD PhD, Narla Mohandas, DSc, Hitoshi Kanno, MD PhD

Blood (2015) 126 (23): 2131.

https://doi.org/10.1182/blood.V126.23.2131.2131

Published: 2015

Journal Articles

KLF1 -null neonates display hydrops fetalis and a deranged erythroid transcriptome

Graham W. Magor, Michael R. Tallack, Kevin R. Gillinder, Charles C. Bell, Naomi McCallum, Bronwyn Williams, Andrew C. Perkins

Blood (2015) 125 (15): 2405–2417.

https://doi.org/10.1182/blood-2014-08-590968

Published: 2015

Includes: Supplemental data

Journal Articles

Germ-Line and Somatic Mutations in Familial Myeloproliferative Neoplasms (MPNs). a Pilot Study

Sucha Nand, MD, Manuel O. Diaz, MD, David E. Marinier, MD, Mark A. Walshauser, MD, Amy B Rosenfeld, Laura C Michaelis, MD, Patrick J Stiff, MD, Xiaowu Gai, MD

Blood (2014) 124 (21): 3214.

https://doi.org/10.1182/blood.V124.21.3214.3214

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

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Lisa Mirabello, Elizabeth R. Macari, Lea Jessop, Steven R. Ellis, Timothy Myers, Neelam Giri, Alison M. Taylor, Katherine E. McGrath, Jessica M. Humphries, Bari J. Ballew, Meredith Yeager, Joseph F. Boland, Ji He, Belynda D. Hicks, Laurie Burdett, Blanche P. Alter, Leonard Zon, Sharon A. Savage

Blood (2014) 124 (1): 24–32.

https://doi.org/10.1182/blood-2013-11-540278

Published: 2014

Includes: Supplemental data

Journal Articles

A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked

Rui Cui, MD, Guoqing Zhu, Zefeng Xu, Yue Zhang, MD, Gang Huang, PhD, Zhijian Xiao, MD

Blood (2013) 122 (21): 4674.

https://doi.org/10.1182/blood.V122.21.4674.4674

Published: 2013

Journal Articles

Telomere Length and Treatment Outcome In Chronic Lymphocytic Leukemia: Results From The CLL8 Trial

Billy Michael Chelliah Jebaraj, PhD, Raymonde Busch, PhD, Thorsten Zenz, MD, Andreas Bühler, MD, Dirk Winkler, MD, Andrea Schnaiter, MD, Jennifer Edelmann, MD, Daniel Mertens, PhD, Sebastian Böttcher, MD, Michael Kneba, MD, Ulrich Jäger, MD, Michael K Wenger, MD, Guenter Fingerle-Rowson, MD PhD, Clemens Wendtner, MD, Anna-Maria Fink, MD, Kirsten Fischer, MD, Michael Hallek, MD, Hartmut Döhner, MD, Stephan Stilgenbauer, MD

Blood (2013) 122 (21): 671.

https://doi.org/10.1182/blood.V122.21.671.671

Published: 2013

Journal Articles

Genotype of proband and thrombophilia screening

Per Morten Sandset

Blood (2013) 122 (15): 2528–2529.

https://doi.org/10.1182/blood-2013-08-519801

Published: 2013

Journal Articles

Influence of proband’s characteristics on the risk for venous thromboembolism in relatives with factor V Leiden or prothrombin G20210A polymorphisms

Paolo Bucciarelli, Valerio De Stefano, Serena M. Passamonti, Daniela Tormene, Cristina Legnani, Elena Rossi, Giancarlo Castaman, Paolo Simioni, Michela Cini, Ida Martinelli

Blood (2013) 122 (15): 2555–2561.

https://doi.org/10.1182/blood-2013-05-503649

Published: 2013

Includes: Supplemental data

Journal Articles

Genetic Diagnosis of Inherited Bleeding Disorders in 1250 Probands From India: A Single Centre Experience

Giridhara R Jayandharan, Ph.D, Govindanattar Sankari Devi, S RajKumar, Everette Nelson, Ramachandran V Shaji, Neeraj Arora, P Shenbagaapriya, Sukesh C Nair, MD, Auro Viswabandya, MD, Biju George, MD, Vikram Mathews, Alok Srivastava, MD

Blood (2012) 120 (21): 1127.

https://doi.org/10.1182/blood.V120.21.1127.1127

Published: 2012

Journal Articles

Human Telomere Disease Due to Disruption of the CCAAT Box of the TERC Promoter

Anna M. Aalbers, MD, Sachiko Kajigaya, PhD, Vincent H.J. van der Velden, PhD, Marry M. van den Heuvel-Eibrink, M.D., Rodrigo T. Calado, MD, PhD, Neal S. Young, MD

Blood (2011) 118 (21): 2405.

https://doi.org/10.1182/blood.V118.21.2405.2405

Published: 2011

NARROW

Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Gene Heterogenicity Diagnosis on Children with Complicated Immunological and Hematological Abnormalities

A Novel Dual Monoclonal Sandwich ELISA for Human Erythroferrone

Clinical Exome Sequencing Unravels New Disease Causing Mutations in Myeloproliferative Neoplasms (MPNs): A Pilot Study in Patients from the State of Qatar

Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia

ATP11C Encodes a Major Flippase in Human Erythrocyte and Its Genetic Defect Causes Congenital Non-Spherocytic Hemolytic Anemia

KLF1 -null neonates display hydrops fetalis and a deranged erythroid transcriptome

Germ-Line and Somatic Mutations in Familial Myeloproliferative Neoplasms (MPNs). a Pilot Study

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

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked

Telomere Length and Treatment Outcome In Chronic Lymphocytic Leukemia: Results From The CLL8 Trial

Genotype of proband and thrombophilia screening

Influence of proband’s characteristics on the risk for venous thromboembolism in relatives with factor V Leiden or prothrombin G20210A polymorphisms

Genetic Diagnosis of Inherited Bleeding Disorders in 1250 Probands From India: A Single Centre Experience

Human Telomere Disease Due to Disruption of the CCAAT Box of the TERC Promoter

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American Society of Hematology

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