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Journal Articles

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)

Omar Niss, MD, Robert B. Lorsbach, MD PhD, David K. Buchbinder, MD MSHS, Satheesh Chonat, MD, Morgan L. McLemore, MD, Timothy McCavit, MD, Jeffrey H Schwartz, MD, Jessica Meznarich, MD, Katie Seu, Wenying Zhang, MD PhD, Theodosia A. Kalfa, MD PhD

Blood (2019) 134 (Supplement_1): 3521.

https://doi.org/10.1182/blood-2019-128975

Published: 2019

Journal Articles

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Ayami Yoshimi, MD PhD, Sarah C Grünert, MD, Holger Cario, MD PhD, Ute Gross-Wieltsch, MD, Udo Kontny, MD, Kyogo Suzuki, MD PhD, Stephan Lobitz, MD, Helen Wagner, MD, Irene Schmid, MD, Daniela Karall, MD, Arndt Borkhardt, MD, Miriam Erlacher, Peter Noellke, MPH, Charlotte M. Niemeyer, MD

Blood (2019) 134 (Supplement_1): 3746.

https://doi.org/10.1182/blood-2019-125199

Published: 2019

Journal Articles

Late Effects in Survivors of Infant Acute Lymphoblastic Leukemia from the 3 Consecutive Japanese Nationwide Clinical Trials

Yuki Aoki, Akira Hayakawa, MD PhD, Kazutoshi Koike, MD PhD, Hisamichi Tauchi, MD PhD, Eiichi Ishii, MD PhD, Katsuyoshi Koh, MD, Takako Miyamura, MD PhD, Yasushi Ishida, MD PhD, Akiko Kada, MPH, Akiko M Saito, MD PhD, Atsushi Manabe, MD PhD, Keizo Horibe, MD PhD, Shuki Mizutani, MD PhD, Miho Maeda, MD, Daisuke Tomizawa, MD PhD

Blood (2019) 134 (Supplement_1): 4559.

https://doi.org/10.1182/blood-2019-123881

Published: 2019

Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH

Blood (2018) 132 (Supplement 1): 3854.

https://doi.org/10.1182/blood-2018-99-117171

Published: 2018

Journal Articles

Large Genomic Deletions in Shwachman-Diamond Syndrome

Lisa J. McReynolds, MD PhD, Kristine Jones, BS, Kedest Teshome, BS, Alyssa Kennedy, MD PhD, Akiko Shimamura, MD PhD, Neelam Giri, MD, Blanche P. Alter, MD MPH, Sharon A. Savage, MD

Blood (2018) 132 (Supplement 1): 2586.

https://doi.org/10.1182/blood-2018-99-118495

Published: 2018

Journal Articles

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Blood (2018) 132 (Supplement 1): 2594.

https://doi.org/10.1182/blood-2018-99-114639

Published: 2018

Journal Articles

Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan

Kenichiro Watanabe, MD PhD, Hirokazu Kanegane, MD PhD, Takayuki Hamabata, MD, Kagehiro Kozuki, MD, Katsutsugu Umeda, MD, PhD, Hiroo Ueno, MD, Kenichi Yoshida, MD PhD, Asahito Hama, Yusuke Okuno, MD PhD, Hideki Muramatsu, MD PhD, Yoshiyuki Takahashi, MD, PhD, Daisuke Hasegawa, MD PhD, Atsushi Manabe, MD PhD, Akira Ohara, MD, Masafumi Ito, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD, Etsuro Ito, MD PhD

Blood (2018) 132 (Supplement 1): 3862.

https://doi.org/10.1182/blood-2018-99-114313

Published: 2018

Journal Articles

Impact of Red Blood Cell Transfusions on Height and Growth of Adolescents with Sickle Cell Disease & Short Stature

Aamer Aleem, MBBS, FRCP, FRCPath, Abdulrahman Alsultan, Ammara Afzal, MD, Sami Alotaibi, MD, Zafar Iqbal, BSc, MSc, PhD, Khalid AlSaleh, MBBS, FRCPC, MRCP

Blood (2018) 132 (Supplement 1): 4935.

https://doi.org/10.1182/blood-2018-99-111591

Published: 2018

Journal Articles

Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

Reena Das, MD, Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Arindam Maitra, PhD, Deepak Bansal, MD, Pankaj Malhotra, MD

Blood (2018) 132 (Supplement 1): 2326.

https://doi.org/10.1182/blood-2018-99-114554

Published: 2018

Journal Articles

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

Inderjeet Dokal, MD

Blood (2017) 130 (Supplement 1): SCI-22.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-22.SCI-22

Published: 2017

Journal Articles

The Clinical and Hematologic Course of Fanconi Anemia Amongst Affected Siblings

Moonjung Jung, MD, Ozgur Rosti, MD, Caroline S Jiang, PhD, Joel Correa da Rosa, PhD, Arlene D. Auerbach, PhD, Agata Smogorzewska, MD PhD, Farid Boulad, MD

Blood (2017) 130 (Supplement 1): 1185.

https://doi.org/10.1182/blood.V130.Suppl_1.1185.1185

Published: 2017

Journal Articles

DNAJC21 : the new kid on the SDS block

Lucy A. Godley

Blood (2017) 129 (11): 1413–1414.

https://doi.org/10.1182/blood-2017-01-761635

Published: 2017

Journal Articles

Coagulation Abnormalities and Hemostatic Surgical Outcomes in 142 Patients with Noonan Syndrome

Juliana Perez Botero, MD, Thanh Ho, MD, Vilmarie Rodriguez, MD, Shaquila P Khan, MD, Rajiv K. Pruthi, MD, Mrinal M Patnaik, MBBS

Blood (2016) 128 (22): 1417.

https://doi.org/10.1182/blood.V128.22.1417.1417

Published: 2016

Journal Articles

Gene Disruption of Zebrafish Sbds Phenocopies Human Shwachman-Diamond Syndrome but Suggests More Global and Lineage Defects

Usua Oyarbide, PhD, Margaret J Kell, Javier Farinas, BS, Jacek Topczewski, PhD, Seth Corey, MD MPH

Blood (2016) 128 (22): 336.

https://doi.org/10.1182/blood.V128.22.336.336

Published: 2016

Journal Articles

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Demirel Mehmet, Sule Unal, Fatma Gumruk, Nurten Ayse Akarsu

Blood (2016) 128 (22): 5073.

https://doi.org/10.1182/blood.V128.22.5073.5073

Published: 2016

Journal Articles

The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes

Wenbin An, MD, Ye Guo, Yumei Chen, Yao Zou, Xiaojuan Chen, Wenyu Yang, Lixian Chang, MD, Yang Wan, MD, Xiaofan Zhu, MD

Blood (2016) 128 (22): 3908.

https://doi.org/10.1182/blood.V128.22.3908.3908

Published: 2016

Journal Articles

Inflammatory Niche Signalling Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Leukemic Evolution in Human Leukemia Predisposition Syndromes

Blood (2016) 128 (22): 428.

https://doi.org/10.1182/blood.V128.22.428.428

Published: 2016

Journal Articles

Long Term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Beta Thalassemia Major

Fouzia NA, DM, Sindhuvi E, MSc, PhD, Kavitha ML, MSc, Korula A, MD DM, Abraham A, MD DM, George B, MD DM, Mathews V, MD DM, Alok Srivastava, MD FRACP, FRCPA, FRCP

Blood (2016) 128 (22): 4606.

https://doi.org/10.1182/blood.V128.22.4606.4606

Published: 2016

Journal Articles

Current growth patterns in children and adolescents with thalassemia major

Raffaella Origa, Fabrice Danjou, Valeria Orecchia, Antonietta Zappu, Carlo Dessì, Maria Loreta Foschini, Giovan Battista Leoni, Paolo Moi, Maddalena Morittu, Anna Demurtas, Sandro Loche

Blood (2016) 128 (21): 2580–2582.

https://doi.org/10.1182/blood-2016-05-712695

Published: 2016

Includes: Supplemental data

Journal Articles

Disrupted Expression of the Splicing Regulators Tra2-Beta and SRSF1 and Subsequent Aberrant Splicing of FLVCR1 Transcript As an Underlying Mechanism for the Erythropoietic Failure Observed in Diamond-Blackfan Anemia

Chetankumar S Tailor, PhD, Francisco Ama Aidoo, MSc, Abigail Brenda Fernandes, MSc, Rutvikkumar Patel, Yigal Dror, MD FRCP(C)

Blood (2015) 126 (23): 1203.

https://doi.org/10.1182/blood.V126.23.1203.1203

Published: 2015

NARROW

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Late Effects in Survivors of Infant Acute Lymphoblastic Leukemia from the 3 Consecutive Japanese Nationwide Clinical Trials

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Large Genomic Deletions in Shwachman-Diamond Syndrome

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan

Impact of Red Blood Cell Transfusions on Height and Growth of Adolescents with Sickle Cell Disease & Short Stature

Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

The Clinical and Hematologic Course of Fanconi Anemia Amongst Affected Siblings

DNAJC21 : the new kid on the SDS block

Coagulation Abnormalities and Hemostatic Surgical Outcomes in 142 Patients with Noonan Syndrome

Gene Disruption of Zebrafish Sbds Phenocopies Human Shwachman-Diamond Syndrome but Suggests More Global and Lineage Defects

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes

Inflammatory Niche Signalling Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Leukemic Evolution in Human Leukemia Predisposition Syndromes

Long Term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Beta Thalassemia Major

Current growth patterns in children and adolescents with thalassemia major

Disrupted Expression of the Splicing Regulators Tra2-Beta and SRSF1 and Subsequent Aberrant Splicing of FLVCR1 Transcript As an Underlying Mechanism for the Erythropoietic Failure Observed in Diamond-Blackfan Anemia

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American Society of Hematology

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American Society of Hematology

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