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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

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

Evaluating The Utility Of Telomere Length Measurement By Qpcr As a Diagnostic Test For Dyskeratosis Congenita

Payal Khincha, MD, Shahinaz M Gadalla, MD, PhD, Hormuzd Katki, Neelam Giri, MD, Jason Wong, Stephen Spellman, MBS, Jack Yanovski, Joan Han, Immaculata De Vivo, Blanche P Alter, MD, MPH, Sharon A Savage, MD

Blood (2013) 122 (21): 3700.

https://doi.org/10.1182/blood.V122.21.3700.3700

Published: 2013

Journal Articles

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Chaim Jalas, Anastasia Fedick, Bari J Ballew, PhD, Blanche P Alter, MD, MPH, Neelam Giri, MD, Simon Boulton, Kenneth Offit, John Petrini, PhD, Nathan Treff, Sharon A Savage, MD

Blood (2013) 122 (21): 1228.

https://doi.org/10.1182/blood.V122.21.1228.1228

Published: 2013

Journal Articles

Constitutional Telomerase-Associated Gene Variants in Pediatric Acute Myeloid Leukemia (AML)

M. Monica Gramatges, MD, Ghadir S. Sasa, MD, Xiaodong Qi, Julian J-L Chen, PhD, Sharon E Plon, MD, PhD, Alison A. Bertuch, MD, PhD

Blood (2012) 120 (21): 1408.

https://doi.org/10.1182/blood.V120.21.1408.1408

Published: 2012

Journal Articles

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

Bari J. Ballew, PhD, Kevin B. Jacobs, M.S., Meredith Yeager, PhD, Neelam Giri, MD, Joseph F. Boland, Belynda D. Hicks, Laurie Burdett, PhD, Amy A. Hutchinson, Blanche P. Alter, MD, MPH, Sharon A. Savage, MD

Blood (2012) 120 (21): 515.

https://doi.org/10.1182/blood.V120.21.515.515

Published: 2012

Journal Articles

Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita.

Payal Khincha, MD, Ingrid Wentzensen, MD, Neelam Giri, MD, Blanche P Alter, MD, MPH, Sharon A Savage, MD

Blood (2012) 120 (21): 2361.

https://doi.org/10.1182/blood.V120.21.2361.2361

Published: 2012

Journal Articles

Mutations In TCAB1 Cause Dyskeratosis Congenita

Sharon A Savage, MD, Franklin Zhong, Neelam Giri, MD, Lea Jessop, PhD, Timothy Myers, Renee Chen, MA, Blanche P Alter, Steven Artandi, MD, PhD

Blood (2010) 116 (21): 197.

https://doi.org/10.1182/blood.V116.21.197.197

Published: 2010

Journal Articles

Longitudinal Changes In Telomere Length In Patients with Dyskeratosis Congenita

Blanche P Alter, Neelam Giri, MD, Peter M. Lansdorp, MD, PhD, Gabriela M. Baerlocher, MD, Philip S Rosenberg, PhD, Sharon Savage, MD

Blood (2010) 116 (21): 2230.

https://doi.org/10.1182/blood.V116.21.2230.2230

Published: 2010

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

TERT Mutations in Patients with Squamous Cell Carcinoma of the Tongue and Refractory Anemia

Geraldine Aubert, PhD, Mark Hills, PhD, Carol Cremin, MSc, CCGC, Irma Vulto, Barbara McGillivray, MD, FRCPC, FCCMG, Peter M. Lansdorp, MD, PhD

Blood (2008) 112 (11): 3096.

https://doi.org/10.1182/blood.V112.11.3096.3096

Published: 2008

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

Chronic Lymphocytic Leukemia Complicated with Paraneoplastic Pemphigus and Glomerulonephritis in a Patient and Its Treatments: Report of One Case.

Qian Si Xuan, Li Jian Yong, Hong Ming, Changgeng Ruan, MD.

Blood (2007) 110 (11): 4725.

https://doi.org/10.1182/blood.V110.11.4725.4725

Published: 2007

Journal Articles

TINF2 , a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita.

Sharon A. Savage, MD, Neelam Giri, MD, Gabriela M. Baerlocher, MD, Nick Orr, PhD, Peter M. Lansdorp, MD, PhD, Blanche P. Alter, MD

Blood (2007) 110 (11): 835.

https://doi.org/10.1182/blood.V110.11.835.835

Published: 2007

Journal Articles

A Novel hTERC Deletion Manifesting with Features of Dyskeratosis Congenita and Genetic Anticipation.

Stan Benke, D. S. Houston, Inderjeet Dokal, Tom Vulliamy

Blood (2004) 104 (11): 4157.

https://doi.org/10.1182/blood.V104.11.4157.4157

Published: 2004

Journal Articles

Centrosome Aberrations in Chronic Myeloid Leukemia (CML) Are Correlated with Disease Progression and Chromosome Instability.

Michelle Giehl, Alice Fabarius, Chun Zheng, Oliver Frank, Andreas Hochhaus, Mathias Hafner, Rudiger Hehlmann, Wolfgang Seifarth

Blood (2004) 104 (11): 2949.

https://doi.org/10.1182/blood.V104.11.2949.2949

Published: 2004

NARROW

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

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

Evaluating The Utility Of Telomere Length Measurement By Qpcr As a Diagnostic Test For Dyskeratosis Congenita

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Constitutional Telomerase-Associated Gene Variants in Pediatric Acute Myeloid Leukemia (AML)

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita.

Mutations In TCAB1 Cause Dyskeratosis Congenita

Longitudinal Changes In Telomere Length In Patients with Dyskeratosis Congenita

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

TERT Mutations in Patients with Squamous Cell Carcinoma of the Tongue and Refractory Anemia

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

Chronic Lymphocytic Leukemia Complicated with Paraneoplastic Pemphigus and Glomerulonephritis in a Patient and Its Treatments: Report of One Case.

TINF2 , a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita.

A Novel hTERC Deletion Manifesting with Features of Dyskeratosis Congenita and Genetic Anticipation.

Centrosome Aberrations in Chronic Myeloid Leukemia (CML) Are Correlated with Disease Progression and Chromosome Instability.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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