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Journal Articles

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Usua Oyarbide Cuervas-Mons, PhD MSc, BSc, Matthew Snyderman, MSc, Jacek Topczewski, PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3737.

https://doi.org/10.1182/blood-2019-129014

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

Decline in Forced Expiratory Volume in 1 Second in Older Adults with Sickle Cell Disease Is Similar to Adults with Cystic Fibrosis

Brock Hodges, Jodi-Anne T Stewart, BS, Mark Rodeghier, PhD, Karina L Wilkerson, NP, MSN, Adetola A. Kassim, MDMS, Michael R. DeBaun, MDMPH

Blood (2019) 134 (Supplement_1): 1012.

https://doi.org/10.1182/blood-2019-123428

Published: 2019

Journal Articles

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

Blood (2019) 134 (Supplement_1): 216.

https://doi.org/10.1182/blood-2019-130083

Published: 2019

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

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

Folate Testing and Deficiency in Hospitalized Cancer Patients

Zachary D. Epstein-Peterson, MD, Gerald A. Soff, MD, Maly Fenelus, MD, Deborah Korenstein, MD

Blood (2018) 132 (Supplement 1): 5814.

https://doi.org/10.1182/blood-2018-99-117073

Published: 2018

Journal Articles

Pearson Marrow Pancreas Syndrome In a Cohort Of Diamond Blackfan Anemia Patients

Blood (2013) 122 (21): 1226.

https://doi.org/10.1182/blood.V122.21.1226.1226

Published: 2013

Journal Articles

Variable Clinical Phenotype and Course In Greek Patients with Shwachman-Diamond Syndrome Carrying Identical SBDS Mutations

Polyxeni Delaporta, MD, Christalena Sofocleous, Stavros Doudounakis, MD, Marina Economou, MD, Emmanouil Kanavakis, MD, Antonios Kattamis, MD

Blood (2010) 116 (21): 4431.

https://doi.org/10.1182/blood.V116.21.4431.4431

Published: 2010

Journal Articles

Derivation of Disease-Free Induced Pluripotent Stem Cells From Patients with Pearson Marrow Pancreas Syndrome

Suneet Agarwal, M.D., Ph.D., Anne B.C. Cherry, Erin M. McLoughlin, Paul H. Lerou, M.D., Justine D. Miller, Hongguang Huo, Odelya Hartung, Rebecca L. Zon, Mark D. Fleming, M.D., D.Phil., Tan A. Ince, M.D., Ph.D., Ellis J. Neufeld, M.D., Ph.D., George Q. Daley, M.D., Ph.D.

Blood (2010) 116 (21): 3.

https://doi.org/10.1182/blood.V116.21.3.3

Published: 2010

Journal Articles

Sec23b deficiency In Mice Results In Pancreatic Destruction and Defective long Term Hematopoietic Stem Cell Function

Matthew Vasievich, BS, Bin Zhang, PhD, Jesse Rinehart, PhD, Morgan Jones, BS/MS, Ivan Maillard, MD, PhD, David Ginsburg, MD

Blood (2010) 116 (21): 2038.

https://doi.org/10.1182/blood.V116.21.2038.2038

Published: 2010

Journal Articles

Shwachman-Diamond Syndrome: Development of a North American Registry to Assess Long-Term Outcomes, Risk of Leukemia and Other Complications.

Akiko Shimamura, MD, PhD, Audrey Anna Bolyard, R.N., B.S., Tracy M Marrero, Melissa Alvendia, Research, Associate, Lynda Ellis, RN, Johanna M Rommens, Richard E. Harris, MD, Peter Durie, MD, Yigal Dror, MD, David C. Dale, MD

Blood (2009) 114 (22): 1363.

https://doi.org/10.1182/blood.V114.22.1363.1363

Published: 2009

Journal Articles

Reactive Oxygen Species Regulate Spontaneous and Fas-Mediated Apoptosis in SBDS-Deficient Cells.

Chhaya Ambekar, PhD, Bikul Das, Herman Yeger, Sr., Yigal Dror, MD

Blood (2008) 112 (11): 2036.

https://doi.org/10.1182/blood.V112.11.2036.2036

Published: 2008

Journal Articles

Characterization of siRNA-Mediated SBDS-Knockdown Cells: Specific Hypersensitivity to Fas Stimulation.

Ken-ichiro Watanabe, MD, Yigal Dror, MD

Blood (2005) 106 (11): 386.

https://doi.org/10.1182/blood.V106.11.386.386

Published: 2005

Journal Articles

Successful Unrelated Umbilical Cord Blood Transplantation for Shwachman-Diamond Syndrome.

Rajeev Vibhakar, MD, PhD, MPH, Stephen L. Rumelhart, PA-C, David J. Tatman, MS, Mohamed A. Radhi, MD, Frederick D. Goldman, MD, MS

Blood (2004) 104 (11): 5179.

https://doi.org/10.1182/blood.V104.11.5179.5179

Published: 2004

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Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

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

Decline in Forced Expiratory Volume in 1 Second in Older Adults with Sickle Cell Disease Is Similar to Adults with Cystic Fibrosis

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

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

Large Genomic Deletions in Shwachman-Diamond Syndrome

Folate Testing and Deficiency in Hospitalized Cancer Patients

Pearson Marrow Pancreas Syndrome In a Cohort Of Diamond Blackfan Anemia Patients

Variable Clinical Phenotype and Course In Greek Patients with Shwachman-Diamond Syndrome Carrying Identical SBDS Mutations

Derivation of Disease-Free Induced Pluripotent Stem Cells From Patients with Pearson Marrow Pancreas Syndrome

Sec23b deficiency In Mice Results In Pancreatic Destruction and Defective long Term Hematopoietic Stem Cell Function

Shwachman-Diamond Syndrome: Development of a North American Registry to Assess Long-Term Outcomes, Risk of Leukemia and Other Complications.

Reactive Oxygen Species Regulate Spontaneous and Fas-Mediated Apoptosis in SBDS-Deficient Cells.

Characterization of siRNA-Mediated SBDS-Knockdown Cells: Specific Hypersensitivity to Fas Stimulation.

Successful Unrelated Umbilical Cord Blood Transplantation for Shwachman-Diamond Syndrome.

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