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Elena Pumbo
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Journal Articles

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements

Hong-Yan Du, Elena Pumbo, Jennifer Ivanovich, Ping An, Richard T. Maziarz, Ulrike M. Reiss, Deborah Chirnomas, Akiko Shimamura, Adrianna Vlachos, Jeffrey M. Lipton, Rakesh K. Goyal, Frederick Goldman, David B. Wilson, Philip J. Mason, Monica Bessler
Journal: Blood
Blood (2009) 113 (2): 309–316.
https://doi.org/10.1182/blood-2008-07-166421
Published: 2009
Includes: Supplemental data
Journal Articles

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

Brief Report
Hong-Yan Du, Elena Pumbo, Peter Manley, Joshua J. Field, Susan J. Bayliss, David B. Wilson, Philip J. Mason, Monica Bessler
Journal: Blood
Blood (2008) 111 (3): 1128–1130.
https://doi.org/10.1182/blood-2007-10-120907
Published: 2008
Includes: Supplemental data
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
Journal: Blood
Blood (2007) 110 (11): 1675.
https://doi.org/10.1182/blood.V110.11.1675.1675
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
Journal: Blood
Blood (2007) 110 (11): 836.
https://doi.org/10.1182/blood.V110.11.836.836
Published: 2007