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Journal Articles

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

Elif Asik, PhD, Nimrat Chatterjee, PhD, Alison A. Bertuch, MD PhD

Blood (2019) 134 (Supplement_1): 104.

https://doi.org/10.1182/blood-2019-128953

Published: 2019

Journal Articles

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 5015.

https://doi.org/10.1182/blood-2019-121743

Published: 2019

Journal Articles

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Anna Cordeiro, PhD, Adam P Deveau, MSc, Santhosh Dhanraj, PhD, Yigal Dror, MDFRCPC, Jason Berman, MD

Blood (2019) 134 (Supplement_1): 3744.

https://doi.org/10.1182/blood-2019-130147

Published: 2019

Journal Articles

Telomere Elongation and Clinical Improvement in Telomeropathy Patients: A Prospective Clinical Trial of Nandrolone in Telomeropathies

Diego V Clé, MD PhD, Luiz Fernando Catto, MD, Luiz Guilherme Darrigo, PhD, Elvis Valera, Fernanda Gutierrez-Rodrigues, PhD, Flavia S. Donaires, PhD, André Pinto, Renan C. Albino, Bárbara Santana, Jose Baddini-Martinez, MD PhD, Rodrigo T. Calado, MD PhD

Blood (2019) 134 (Supplement_1): 2501.

https://doi.org/10.1182/blood-2019-130844

Published: 2019

Journal Articles

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 2507.

https://doi.org/10.1182/blood-2019-130129

Published: 2019

Journal Articles

Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita

Benjamin Rolles, MD, Alla Bulashevska, PhD, Michele Proietti, MD, Sigune Goldacker, MD, Klaus Warnatz, MD, Nadezhda Camacho-Ordonez, MD, Margherita Vieri, MSc, Martin Kirschner, MD, Tim H Brümmendorf, MD, Bodo Grimbacher, MD, Fabian Beier, MD

Blood (2019) 134 (Supplement_1): 1217.

https://doi.org/10.1182/blood-2019-128915

Published: 2019

Journal Articles

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita

Wilson Chun Fok, Siddharth Shukla, Alexandre Teixeira Vessoni, Kirsten Ann Brenner, Roy Parker, Christopher M. Sturgeon, Luis Francisco Zirnberger Batista

Blood (2019) 133 (12): 1308–1312.

https://doi.org/10.1182/blood-2018-11-885368

Published: 2019

Includes: Supplemental data

Journal Articles

Therapeutic Targeting of Telomere Diseases Via Novel Small Molecule Modulators of Non-Coding RNA Biogenesis

Neha Nagpal, PhD, Jianing Wang, Emily Lo, Albert Tai, Patrick Cahan, PhD, Yick Fong, PhD, Suneet Agarwal, MDPhD

Blood (2018) 132 (Supplement 1): 647.

https://doi.org/10.1182/blood-2018-99-118800

Published: 2018

Journal Articles

Deletion of the p53 Target Gene PUMA Prevents Bone Marrow Failure in a Dyskeratosis Congenita Mouse Model

Miriam Erlacher, MD PhD, Christian Molnar, Julia Miriam Weiss, Sheila Bohler, Doris Steinemann, PhD, Gudrun Göhring, MD, Andreas Villunger, Verena Labi, Charlotte Niemeyer, MD, Alexander Egle, MD

Blood (2018) 132 (Supplement 1): 648.

https://doi.org/10.1182/blood-2018-99-116349

Published: 2018

Journal Articles

Telomere Length and Telomerase Complex Mutations Predict Fatal Treatment Toxicity after Stem Cell Transplantation in Patients with Myelodysplastic Syndrome

Mikko Myllymaki, MD PhD, Robert A. Redd, MS, Corey S. Cutler, MD MPH, Wael Saber, MD MS, Zhen-Huan Hu, MPH, Tao Wang, PhD, Stephen R. Spellman, Christopher J. Gibson, MD, Maxine M Chen, Esther Orr, David P. Steensma, MD, Joseph H. Antin, MD, Immaculata De Vivo, Donna S Neuberg, ScD, Suneet Agarwal, MDPhD, R. Coleman Lindsley, MD, PhD

Blood (2018) 132 (Supplement 1): 796.

https://doi.org/10.1182/blood-2018-99-117031

Published: 2018

Journal Articles

Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in Dyskeratosis Congenita

Christopher Lengner

Blood (2018) 132 (Supplement 1): SCI-30.

https://doi.org/10.1182/blood-2018-99-109480

Published: 2018

Journal Articles

Comparison of Fluorescence in Situ Hybridization and Flow Cytometry (Flow-FISH) with Monochrome Multiplex Quantitative Polymerase Chain Reaction (MM-qPCR) for Telomere Length Screening in Adult Patients with Suspected Cryptic Dyskeratosis Congenita (DKC)

Monica Sofia Ventura Ferreira, PhD, Natalia Estrada, Martin Kirschner, MD, Blanca Xicoy, Anne-Sophie Bouillon, MD, Stefan Wilop, MD, Steffen Koschmieder, MD, Jens P. Panse, MD, Tim H. Brümmendorf, MD, Fabian Beier, MD

Blood (2018) 132 (Supplement 1): 3861.

https://doi.org/10.1182/blood-2018-99-117330

Published: 2018

Journal Articles

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Fernanda Gutierrez-Rodrigues, PhD, Flávia S Donaires, PhD, André Pinto, Alana Vicente, MD, Laura Dillon, PhD, Diego V Clé, MDPhD, Bárbara Santana, Maria del Pilar Fernandez Ibanez, Danielle M. Townsley, MD MSc, Sachiko Kajigaya, PhD, Christopher S. Hourigan, DPhil FACP FRCP, James N. Cooper, MD, Rodrigo T. Calado, MD PhD, Neal S. Young, MD

Blood (2018) 132 (Supplement 1): 539.

https://doi.org/10.1182/blood-2018-99-115430

Published: 2018

Journal Articles

Characterization of hTERT Mutations in Bone Marrow Failure Syndromes

Erin Degelman, MSc, BSc, Tara L Beattie, PhD

Blood (2018) 132 (Supplement 1): 5104.

https://doi.org/10.1182/blood-2018-99-117987

Published: 2018

Journal Articles

Epidemiological Study of Aplastic Anemia in Algeria for 844 Cases over 10 Years (2007-2016)

Blood (2018) 132 (Supplement 1): 5109.

https://doi.org/10.1182/blood-2018-99-114094

Published: 2018

Journal Articles

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Anna L. Brown, PhD BSc, Mark Armstrong, MSc, David Lawrence, Paul Wang, Peer Arts, PhD, Nicolas Duployez, PharmD, PhD, Jane Churpek, MD, Kiran Tawana, MD, Erin Degelman, MSc, BSc, Georges Natsoulis, PhD, Monica L. Guzman, PhD, Mrinal M. Patnaik, MD MBBS, Akiko Shimamura, MD PhD, Alan B. Cantor, MD PhD, Tim Ripperger, MD PhD, Brigitte Schlegelberger, MD PhD, Doris Steinemann, PhD, Courtney D. DiNardo, MD MSc, Cristina Mecucci, MD PhD, Elvira DRP Velloso, MD PhD, Fabio PS Santos, MD, Marcela CA Silva, Uma Borate, MD, Shannon K. McWeeney, PhD, Grzegorz Nalepa, MD PhD, Susanne Ragg, MD PhD, Erika Mijin Kwon, PhD, Anupriya Agarwal, PhD, Stephen Langabeer, PhD, Jeffery M. Klco, MD PhD, Jun J. Yang, PhD, Cecily Forsyth, FRACP, FRCPA, MBBS, Sally Mapp, MD PhD, Helen Mar Fan, MD, Lesley Rawlings, PhD, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Andrew H Wei, MBBS,PhD, Inderjeet Dokal, MD, Tom Vulliamy, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Deepak Singhal, MBBS, MD FRACP, FRCPA, Susan Branford, PhD, Elli Papaemmanuil, PhD, Jean Soulier, MDPhD, Stefan Fröhling, MD, Alwin Kramer, MD, Guy Sauvageau, MD PhD, Neil Morgan, Carolyn Owen, Csaba Bödör, PhD, Jude Fitzgibbon, Hugh Y. Rienhoff, Jr., MD, Mineo Kurokawa, MD PhD, Lucy Godley, MD PhD, Claude Preudhomme, Paul P Liu, MD PhD, Nicola Poplawski, MD, Christopher N. Hahn, PhD, Hamish S. Scott, PhD

Blood (2018) 132 (Supplement 1): 5241.

https://doi.org/10.1182/blood-2018-99-118017

Published: 2018

Journal Articles

Androgen Derivatives Improve Blood Counts and Elongate Telomere Length in Patients with Dyskeratosis Congenita

Martin Kirschner, MD, Monica Sofia Ventura Ferreira, PhD, Anne-Sophie Bouillon, MD, Marcin W. Wlodarski, MD PhD, Michaela Schwarz, MD, Stefan Balabanov, MD PhD, Stefan Wilop, MD, Steffen Koschmieder, MD, Jens P. Panse, MD, Tim H. Brümmendorf, MD, Fabian Beier, MD

Blood (2018) 132 (Supplement 1): 2585.

https://doi.org/10.1182/blood-2018-99-118197

Published: 2018

Journal Articles

Towards Improved Decision-Making Based on Genomics in Bone Marrow Failure

Fernanda Gutierrez-Rodrigues, PhD, Carrie Diamond, MD, Ruba Shalhoub, André Pinto, Flávia S Donaires, PhD, Diego V Clé, MD PhD, Luiz Guilherme Darrigo, PhD, Luiz Fernando Catto, MD, Xing Fan, MD, Maria del Pilar Fernandez Ibanez, Sachiko Kajigaya, PhD, Cynthia E. Dunbar, MD, Carmem M. S. Bonfim, MD, Danielle M. Townsley, MD MSc, Rodrigo T. Calado, MD PhD, Neal S. Young, MD

Blood (2018) 132 (Supplement 1): 2587.

https://doi.org/10.1182/blood-2018-99-115026

Published: 2018

Journal Articles

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Hemanth Tummala, Laura C. Collopy, Amanda J. Walne, Alicia Ellison, Shirleny Cardoso, Tekin Aksu, Nese Yarali, Deniz Aslan, Rüştü Fikret Akata, Juliana Teo, Zhou Songyang, Nikolas Pontikos, Jude Fitzgibbon, Kazunori Tomita, Tom Vulliamy, Inderjeet Dokal

Blood (2018) 132 (12): 1349–1353.

https://doi.org/10.1182/blood-2018-03-837799

Published: 2018

Includes: Supplemental data

Journal Articles

Detection of Clonal Hematopoiesis Is a Rare Event in Patients with Dyskeratosis Congenita

Martin Kirschner, MD, Angela Maurer, Marcin W. Wlodarski, MD PhD, Monica Sofia Ventura Ferreira, Anne-Sophie Bouillon, MD, Wolfgang Blau, Michael Kreuter, MD, Martin Rosewich, Selim Corbacioglu, MD PhD, Joachim Beck, MD, C. Matthias Wilk, MD, Steffen Koschmieder, Fabian Beier, MD, Tim H. Brummendorf, MD

Blood (2017) 130 (Supplement 1): 2457.

https://doi.org/10.1182/blood.V130.Suppl_1.2457.2457

Published: 2017

NARROW

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Telomere Elongation and Clinical Improvement in Telomeropathy Patients: A Prospective Clinical Trial of Nandrolone in Telomeropathies

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita

Therapeutic Targeting of Telomere Diseases Via Novel Small Molecule Modulators of Non-Coding RNA Biogenesis

Deletion of the p53 Target Gene PUMA Prevents Bone Marrow Failure in a Dyskeratosis Congenita Mouse Model

Telomere Length and Telomerase Complex Mutations Predict Fatal Treatment Toxicity after Stem Cell Transplantation in Patients with Myelodysplastic Syndrome

Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in Dyskeratosis Congenita

Comparison of Fluorescence in Situ Hybridization and Flow Cytometry (Flow-FISH) with Monochrome Multiplex Quantitative Polymerase Chain Reaction (MM-qPCR) for Telomere Length Screening in Adult Patients with Suspected Cryptic Dyskeratosis Congenita (DKC)

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Characterization of hTERT Mutations in Bone Marrow Failure Syndromes

Epidemiological Study of Aplastic Anemia in Algeria for 844 Cases over 10 Years (2007-2016)

Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Androgen Derivatives Improve Blood Counts and Elongate Telomere Length in Patients with Dyskeratosis Congenita

Towards Improved Decision-Making Based on Genomics in Bone Marrow Failure

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Detection of Clonal Hematopoiesis Is a Rare Event in Patients with Dyskeratosis Congenita

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American Society of Hematology

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American Society of Hematology

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