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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

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

A Donor-Derived Tongue Squamous Cell Carcinoma After Allogeneic Peripheral Blood Stem Cell Transplantation.

Yongxian Hu, Yi Luo, Yamin Tan, Jimin Shi, Jie Zhang, Youfa Zhu, Wei Ding, He Huang, MD, PhD

Blood (2010) 116 (21): 4510.

https://doi.org/10.1182/blood.V116.21.4510.4510

Published: 2010

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 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

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

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

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

Telomere Length Measurement by Flow-FISH Distinguishes Dyskeratosis Congenita from Other Bone Marrow Failure Syndromes.

Blanche P. Alter, MD, MPH, Gabriela Baerlocher, MD, Sharon A. Savage, MD, Stephen Jacob Chanock, MD, Babette B. Weksler, MD, Judith P. Willner, MD, June A. Peters, MS, Peter M. Lansdorp, MD, PhD

Blood (2006) 108 (11): 183.

https://doi.org/10.1182/blood.V108.11.183.183

Published: 2006

Journal Articles

Identification and Functional Characterization of Telomerase RNA Variant Alleles in Japanese Patients with Aplastic Anemia or Myelodysplastic Syndrome.

Junko Takeuchi, MD, Ly Hinh, PhD, Beauchamp Adam, PhD, Koiti Inokuchi, MD, PhD, Fumiko Kosaka, Kazuhiro Sawaguchi, Yoshio Mitamura, Ayako Watanabe, MD, PhD, Seiji Gomi, MD, PhD, Hiroki Yamaguchi, MD, PhD, Kazuo Dan, MD, PhD

Blood (2006) 108 (11): 977.

https://doi.org/10.1182/blood.V108.11.977.977

Published: 2006

Journal Articles

A Large Mennonite Family with a Novel K570N TERT Gene Mutation: Association with a Clinical Spectrum of Bone Marrow Failure, Acute Myeloid Leukemia, and Acute Liver Failure.

Joshua A. Regal, BS, Rodrigo T. Calado, MD, PhD, Aarthi Shenoy, MD, Peter M. Lansdorp, MD, PhD, Neal S. Young, MD

Blood (2006) 108 (11): 992.

https://doi.org/10.1182/blood.V108.11.992.992

Published: 2006

Journal Articles

NCI Fanconi’s Anemia Cohort: Hematology and Beyond.

Neelam Giri, MD, Dalia Batista, MD, Constantine Stratakis, MD, Ekaterini T. Tsilou, MD, Hung J. Kim, MD, Blanche P. Alter, MD, MPH

Blood (2005) 106 (11): 1057.

https://doi.org/10.1182/blood.V106.11.1057.1057

Published: 2005

Journal Articles

Evidence for T-Cell Oligoclonal Expansion in Aplastic Anemia Associated with Telomerase Complex Mutations: Pathophysiological and Clinical Implications.

Rodrigo T. Calado, MD, PhD, Tullia Bruno, Keisha L. Wilkerson, Neal S. Young, MD

Blood (2005) 106 (11): 1052.

https://doi.org/10.1182/blood.V106.11.1052.1052

Published: 2005

NARROW

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

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.

A Donor-Derived Tongue Squamous Cell Carcinoma After Allogeneic Peripheral Blood Stem Cell Transplantation.

High Prevalence of TERT Mutations in Chronic Lymphocytic Leukemia

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

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

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

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

Telomere Length Measurement by Flow-FISH Distinguishes Dyskeratosis Congenita from Other Bone Marrow Failure Syndromes.

Identification and Functional Characterization of Telomerase RNA Variant Alleles in Japanese Patients with Aplastic Anemia or Myelodysplastic Syndrome.

A Large Mennonite Family with a Novel K570N TERT Gene Mutation: Association with a Clinical Spectrum of Bone Marrow Failure, Acute Myeloid Leukemia, and Acute Liver Failure.

NCI Fanconi’s Anemia Cohort: Hematology and Beyond.

Evidence for T-Cell Oligoclonal Expansion in Aplastic Anemia Associated with Telomerase Complex Mutations: Pathophysiological and Clinical Implications.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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