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Journal Articles

Heterozygous RTEL1 Variants Are Associated with Bone Marrow Failure and Abnormal Clinical Phenotype

Shreyans Gandhi, MD DNB, MRCP, FRCPath, Jie Jiang, Mariam Ibanez, Isabelle Callebaut, Judith CW Marsh, Ghulam J Mufti, MD

Blood (2016) 128 (22): 1043.

https://doi.org/10.1182/blood.V128.22.1043.1043

Published: 2016

Journal Articles

Better Transplant Outcomes with Umbilical Cord Stem Cells in Patients with Dyskeratosis Congenita

Ashish O. Gupta, MD MPH, Steven L Shein, MD, Jignesh D Dalal, MD

Blood (2016) 128 (22): 3592.

https://doi.org/10.1182/blood.V128.22.3592.3592

Published: 2016

Journal Articles

Prognostic Significance of Pulmonary Function Test Abnormalities in Patients with Dyskeratosis Congenita

Neelam Giri, MD, Sandhiya Ravichandran, Joseph Fontana, MD, Blanche P. Alter, MD MPH, Payal Khincha, MD, Sharon A Savage, MD

Blood (2016) 128 (22): 2672.

https://doi.org/10.1182/blood.V128.22.2672.2672

Published: 2016

Journal Articles

Telomere Biology Gene Mutation and Transplant Outcome in Patients with Dyskeratosis Congenita

Fernanda Gutierrez-Rodrigues, MSc, PharmD, Gustavo Borges, BSc, Raquel M Alves-Paiva, PhD, Bárbara A Santana-Lemos, PhD, Samantha Nichele, MD, Lisandro L Ribeiro, MD, Michel Michels De Oliveira, MDPhD, Larissa A Medeiros, MD, Gisele Loth, MD, Ricardo Pasquini, MD PhD, Carmem Maria Sales Bonfim, MD, Rodrigo T. Calado, MD PhD

Blood (2015) 126 (23): 4785.

https://doi.org/10.1182/blood.V126.23.4785.4785

Published: 2015

Journal Articles

Suppression of Antioxidant Responses in Dyskeratosis Congenita Cells

Erik Westin, PhD, Larisa Pereboeva, MD PhD, Divya Devadasan, MS, Tim M. Townes, PhD, Frederick D Goldman, MD

Blood (2015) 126 (23): 2412.

https://doi.org/10.1182/blood.V126.23.2412.2412

Published: 2015

Journal Articles

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders

Arun Balakumaran, Prasun J. Mishra, Edyta Pawelczyk, Sayuri Yoshizawa, Brian J. Sworder, Natasha Cherman, Sergei A. Kuznetsov, Paolo Bianco, Neelam Giri, Sharon A. Savage, Glenn Merlino, Bogdan Dumitriu, Cynthia E. Dunbar, Neal S. Young, Blanche P. Alter, Pamela G. Robey

Blood (2015) 125 (5): 793–802.

https://doi.org/10.1182/blood-2014-06-566810

Published: 2015

Includes: Supplemental data

Journal Articles

Consistent Upregulation of Oxidative Stress and DNA Damage Amongst Dyskeratosis Congenita Genotypes: Ameliorative Effects of Antioxidants

Larisa Pereboeva, MD PhD, Erik Westin, PhD, Meredith Hubbard, BS, Frederick D Goldman, MD

Blood (2014) 124 (21): 1603.

https://doi.org/10.1182/blood.V124.21.1603.1603

Published: 2014

Journal Articles

The Clinical and Genetic Features of Dyskeratosis Congenita, Cryptic Dyskeratosis Congenita, and Hoyeraal-Hreidarsson Syndrome in Japan

Hiroki Yamaguchi, MD PhD, Hirotoshi Sakaguchi, MD, Kenichi Yoshida, MD PhD, Miharu Yabe, MD PhD, Hiromasa Yabe, MD PhD, Yusuke Okuno, MD PhD, Hideki Muramatsu, MD PhD, Shunsuke Yui, Koiti Inokuchi, PhD MD, Etsuro Ito, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD

Blood (2014) 124 (21): 1608.

https://doi.org/10.1182/blood.V124.21.1608.1608

Published: 2014

Journal Articles

Successful Engraftment In Children With Severe Aplastic Anemia After Transplantation Of HLA-Identical Hematopoietic Donor Cells With Shorter Telomere Length

Abdulrahman Alsultan, MD, Gabriela M. Baerlocher, MD, Elisabeth Oppliger Leibundgut, PharmD, Sameera AlAfghani, MD, Reem Al-Sudairy, MD, Mohammed Al Balwi, PhD, Mohammed Jarrar, MD

Blood (2013) 122 (21): 2047.

https://doi.org/10.1182/blood.V122.21.2047.2047

Published: 2013

Journal Articles

DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita.

Larisa Pereboeva, MD, PhD, Erik Westin, PhD, Toral Patel, Ian Flaniken, Lawrence S. Lamb, Jr., PhD, Aloysius Klingelhutz, PhD, Frederick D Goldman, MD

Blood (2012) 120 (21): 2359.

https://doi.org/10.1182/blood.V120.21.2359.2359

Published: 2012

Journal Articles

The Effects of Pathogenic Dkc1 Mutations on Telomerase and Ribosome Biogenesis.

Baiwei Gu, Ph.D, Jian-meng Fan, B.S, Rachel Idol, Ph.D, Monica Bessler, MD, PhD, Philip J Mason, Ph.D

Blood (2010) 116 (21): 1163.

https://doi.org/10.1182/blood.V116.21.1163.1163

Published: 2010

Journal Articles

Sezary Syndrome Aberrant Expression of CD26 On CD4+, CD25+, FOXP3+ T Lymphocytes and Prognostic Significance.

Giorgio Corinaldesi, MD, PhD, Christian Corinaldesi, MD

Blood (2009) 114 (22): 4244.

https://doi.org/10.1182/blood.V114.22.4244.4244

Published: 2009

Journal Articles

High Prevalence of TERT Mutations in Chronic Lymphocytic Leukemia

Mark Hills, Alexander Roeth, MD, Holger Nückel, MD, Doug Horsman, Jan Duerig, Randy D. Gascoyne, MD, Peter M. Lansdorp, MD, PhD

Blood (2008) 112 (11): 3126.

https://doi.org/10.1182/blood.V112.11.3126.3126

Published: 2008

Journal Articles

The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort.

Neelam Giri, Christine Mueller, Sarah Weinstein, Suvimol Hill, John Butman, Ekaterini Tsilou, Jeffrey Kim Hung, Sharon A. Savage, Blanche P. Alter

Blood (2008) 112 (11): 2043.

https://doi.org/10.1182/blood.V112.11.2043.2043

Published: 2008

Journal Articles

Dyskeratosis Congenita: Low Regimen-Related Toxicity Following Hematopoietic Cell Transplantation (HCT) Using a Reduced Intensity Conditioning Regimen.

Jakub Tolar, MD, PhD, Paul J. Orchard, M.D., Jeffrey S. Miller, M.D., Margaret L. MacMillan, M.D., John E. Wagner, M.D., Blanche P. Alter, M.D., MPH, K.S. Baker, M.D., M.S.

Blood (2007) 110 (11): 2005.

https://doi.org/10.1182/blood.V110.11.2005.2005

Published: 2007

Journal Articles

Homozygous and Compound Heterozygous Mutations in the Telomerase Reverse Transcriptase Gene in Two Families with Spontaneous Dyskeratosis Congenita and Idiopathic Aplastic Anemia.

Hong-Yan Du, MD, PhD, Elena Pumbo, BSC, Peter Manley, MD, David B. Wilson, MD, Philip Mason, PHD, Monica Bessler, MD, PHD

Blood (2007) 110 (11): 1675.

https://doi.org/10.1182/blood.V110.11.1675.1675

Published: 2007

Journal Articles

Central Nervous System Abnormalities in Dyskeratosis Congenita and Fanconi Anemia: Correlation with Clinical Phenotype and Aplastic Anemia.

Neelam Giri, MD, John A. Butman, MD, Meg F. Keil, Constantine A. Stratakis, MD, Blanche P. Alter, MD, MPH

Blood (2007) 110 (11): 1682.

https://doi.org/10.1182/blood.V110.11.1682.1682

Published: 2007

Journal Articles

Significance of Telomere Length Measurement in the Diagnosis of Dyskeratosis Congenita.

Hong-Yan Du, MD, PhD, Elena Pumbo, Akiko Shimamura, MD, Adrianna Vlachos, MD, Jeffrey M. Lipton, MD, Fred Goldman, MD, David B. Wilson, MD, Philip Mason, PHD, Monica Bessler, MD, PHD

Blood (2007) 110 (11): 836.

https://doi.org/10.1182/blood.V110.11.836.836

Published: 2007

Journal Articles

The Impact of Telomere Shortening in Dyskeratosis Congenita Cells on DNA Damage Response Pathways.

Travis Witt, BS, Aloysius Klingelhutz, PhD, Erik Westin, BS, Preeti Satyanarayana, MD, Peter M. Lansdorp, MD, PhD, Frederick D. Goldman, MD

Blood (2007) 110 (11): 4052.

https://doi.org/10.1182/blood.V110.11.4052.4052

Published: 2007

Journal Articles

The Role of Telomerase Activity and Telomere Length in Cellular Sensitivity to DNA Damaging Agents.

Greg T. Rice, BA, Michael A. Beasley, BS, Ike I. Akabogu, BS, Erik R. Westin, BS, Dale A. Winnike, BSN, Aloysius J. Klingelhutz, PHD, Frederick D. Goldman, MD

Blood (2006) 108 (11): 4192.

https://doi.org/10.1182/blood.V108.11.4192.4192

Published: 2006

NARROW

Heterozygous RTEL1 Variants Are Associated with Bone Marrow Failure and Abnormal Clinical Phenotype

Better Transplant Outcomes with Umbilical Cord Stem Cells in Patients with Dyskeratosis Congenita

Prognostic Significance of Pulmonary Function Test Abnormalities in Patients with Dyskeratosis Congenita

Telomere Biology Gene Mutation and Transplant Outcome in Patients with Dyskeratosis Congenita

Suppression of Antioxidant Responses in Dyskeratosis Congenita Cells

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders

Consistent Upregulation of Oxidative Stress and DNA Damage Amongst Dyskeratosis Congenita Genotypes: Ameliorative Effects of Antioxidants

The Clinical and Genetic Features of Dyskeratosis Congenita, Cryptic Dyskeratosis Congenita, and Hoyeraal-Hreidarsson Syndrome in Japan

Successful Engraftment In Children With Severe Aplastic Anemia After Transplantation Of HLA-Identical Hematopoietic Donor Cells With Shorter Telomere Length

DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita.

The Effects of Pathogenic Dkc1 Mutations on Telomerase and Ribosome Biogenesis.

Sezary Syndrome Aberrant Expression of CD26 On CD4+, CD25+, FOXP3+ T Lymphocytes and Prognostic Significance.

High Prevalence of TERT Mutations in Chronic Lymphocytic Leukemia

The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort.

Dyskeratosis Congenita: Low Regimen-Related Toxicity Following Hematopoietic Cell Transplantation (HCT) Using a Reduced Intensity Conditioning Regimen.

Homozygous and Compound Heterozygous Mutations in the Telomerase Reverse Transcriptase Gene in Two Families with Spontaneous Dyskeratosis Congenita and Idiopathic Aplastic Anemia.

Central Nervous System Abnormalities in Dyskeratosis Congenita and Fanconi Anemia: Correlation with Clinical Phenotype and Aplastic Anemia.

Significance of Telomere Length Measurement in the Diagnosis of Dyskeratosis Congenita.

The Impact of Telomere Shortening in Dyskeratosis Congenita Cells on DNA Damage Response Pathways.

The Role of Telomerase Activity and Telomere Length in Cellular Sensitivity to DNA Damaging Agents.

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American Society of Hematology

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American Society of Hematology

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