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Select item 109050821.

Current use of androgens in bone marrow failure disorders: a report from the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation

Simona Pagliuca, Austin G. Kulasekararaj, Dirk-Jan Eikema, Brian Piepenbroek, Raheel Iftikhar, Tariq Mahmood Satti, Morag Griffin, Marica Laurino, Alphan Kupesiz, Yves Bertrand, Bruno Fattizzo, Ibrahim Yakoub-Agha, Mahmoud Aljurf, Paola Corti, Erika Massaccesi, Bruno Lioure, Marisa Calabuig, Matthias Klammer, Emel Unal, Depei Wu, Patrice Chevallier, Edouard Forcade, John A. Snowden, Hakan Ozdogu, Antonio Risitano, Régis Peffault de Latour

Haematologica. 2024 Mar 1; 109(3): 765–776. Published online 2023 May 18. doi: 10.3324/haematol.2023.282935

PMCID:: PMC10905082

Abstract Article PDF–1.4M

Select item 97469932.

Psychosocial outcomes in Chinese survivors of pediatric cancers or bone marrow failure disorders: A single-center study

Jiaoyang Cai, Yin Ting Cheung, Phillip Lung Wai Au-Doung, Wenting Hu, Yijin Gao, Hua Zhang, Mingjing Ji, Shuhong Shen, Jing Chen, Jingyan Tang

PLoS One. 2022; 17(12): e0279112. Published online 2022 Dec 13. doi: 10.1371/journal.pone.0279112

PMCID:: PMC9746993

Abstract Article PDF–922K

Select item 94790923.

Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders

Jack Bleesing

Front Immunol. 2022; 13: 935321. Published online 2022 Sep 2. doi: 10.3389/fimmu.2022.935321

PMCID:: PMC9479092

Abstract Article PDF–1.5M

Select item 87186274.

Simona Pagliuca, Carmelo Gurnari, Hassan Awada, Ashwin Kishtagari, Sunisa Kongkiatkamon, Laila Terkawi, Misam Zawit, Yihong Guan, Thomas LaFramboise, Babal K. Jha, Bhumika J. Patel, Betty K. Hamilton, Navneet S. Majhail, Sofie Lundgren, Satu Mustjoki, Yogen Saunthararajah, Valeria Visconte, Timothy A. Chan, Chao-Yie Yang, Tobias L. Lenz, Jaroslaw P. Maciejewski

Blood. 2021 Dec 30; 138(26): 2781–2798. doi: 10.1182/blood.2021012900

PMCID:: PMC8718627

Abstract Article

Select item 59851565.

Comparison of a therapeutic‐only versus prophylactic platelet transfusion policy for people with congenital or acquired bone marrow failure disorders

Reem Malouf, Asma Ashraf, Andreas V Hadjinicolaou, Carolyn Doree, Sally Hopewell, Lise J Estcourt, Cochrane Haematological Malignancies Group

Cochrane Database Syst Rev. 2018; 2018(5): CD012342. Published online 2018 May 14. doi: 10.1002/14651858.CD012342.pub2

PMCID:: PMC5985156

Abstract Article PDF–478K

Select item 50279636.

Comparison of a therapeutic‐only versus prophylactic platelet transfusion policy for people with congenital or acquired bone marrow failure disorders

Asma Ashraf, Andreas V Hadjinicolaou, Carolyn Doree, Sally Hopewell, Marialena Trivella, Lise J Estcourt

Cochrane Database Syst Rev. 2016 Sep; 2016(9): CD012342. Published online 2016 Sep 1. doi: 10.1002/14651858.CD012342

Update in:: Cochrane Database Syst Rev. 2018; 2018(5): CD012342.

PMCID:: PMC5027963

Abstract Article PDF–429K

Select item 46501977.

Comparison of a restrictive versus liberal red cell transfusion policy for patients with myelodysplasia, aplastic anaemia, and other congenital bone marrow failure disorders

Yisu Gu, Lise J Estcourt, Carolyn Doree, Sally Hopewell, Paresh Vyas, Cochrane Haematological Malignancies Group

Cochrane Database Syst Rev. 2015 Oct; 2015(10): CD011577. Published online 2015 Oct 5. doi: 10.1002/14651858.CD011577.pub2

PMCID:: PMC4650197

Abstract Article PDF–386K

Select item 44308228.

Comparison of a restrictive versus liberal red cell transfusion policy for patients with myelodysplasia, aplastic anaemia, and other congenital bone marrow failure disorders

Yisu Gu, Lise J Estcourt, Carolyn Doree, Marialena Trivella, Sally Hopewell, Paresh Vyas

Cochrane Database Syst Rev. Author manuscript; available in PMC 2015 May 14.

Published in final edited form as: Cochrane Database Syst Rev. 2015 Mar 11; 3: CD011577. doi: 10.1002/14651858.CD011577

Update in:: Cochrane Database Syst Rev. 2015 Oct; 2015(10): CD011577.

PMCID:: PMC4430822

Abstract Article PDF–238K

Select item 37694939.

Burst-Forming Unit-Erythroid Assays (BFU-E) To Distinguish Cellular Bone Marrow Failure Disorders

Amy E. DeZern, Jeffrey Pu, Michael A. McDevitt, Richard J. Jones, Robert A. Brodsky

Exp Hematol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Exp Hematol. 2013 Sep; 41(9): 808–816. Published online 2013 May 6. doi: 10.1016/j.exphem.2013.04.013

PMCID:: PMC3769493

Abstract Article PDF–193K

Select item 1095665710.

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

Durmus Durmaz, Ayca Dilruba Aslanger, Zehra Yavas Abali, Yasin Yilmaz, Volkan Karaman, Gozde Yesil Sayin, Guven Toksoy, Aysegul Unuvar, Zehra Oya Uyguner

J Pediatr Hematol Oncol. 2024 Apr; 46(3): e214–e219. Published online 2024 Feb 27. doi: 10.1097/MPH.0000000000002839

PMCID:: PMC10956657

Abstract Article PDF–273K

Select item 905766111.

Genetics and genomics of bone marrow failure syndrome

Hyun-Young Kim, Hee-Jin Kim, Sun-Hee Kim

Blood Res. 2022 Apr 30; 57(Suppl 1): 86–92. Published online 2022 Apr 30. doi: 10.5045/br.2022.2022056

PMCID:: PMC9057661

Abstract Article PDF–1.8M

Select item 807166412.

一个MYSM1基因突变致骨髓衰竭综合征4型家系报道附文献复习

黄娟, 詹晓芸, 赵阿兰, 武贝, 杨琰, 谭沛, 万丽君, 芦映红

Zhonghua Xue Ye Xue Za Zhi. 2021 Feb; 42(2): 129–134. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2021.02.007

PMCID:: PMC8071664

Abstract Article PDF–1001K

Select item 637768713.

¹⁸F-FLT PET/MRI for bone marrow failure syndrome-initial experience

Tetsuya Tsujikawa, Toshiki Tasaki, Naoko Hosono, Tetsuya Mori, Akira Makino, Yasushi Kiyono, Paolo Zanotti-Fregonara, Takahiro Yamauchi, Hidehiko Okazawa

EJNMMI Res. 2019; 9: 16. Published online 2019 Feb 15. doi: 10.1186/s13550-019-0490-0

PMCID:: PMC6377687

Abstract Article PDF–2.3M

Select item 612830114.

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

Tsutomu Toki, Kenichi Yoshida, RuNan Wang, Sou Nakamura, Takanobu Maekawa, Kumiko Goi, Megumi C. Katoh, Seiya Mizuno, Fumihiro Sugiyama, Rika Kanezaki, Tamayo Uechi, Yukari Nakajima, Yusuke Sato, Yusuke Okuno, Aiko Sato-Otsubo, Yusuke Shiozawa, Keisuke Kataoka, Yuichi Shiraishi, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka, Kiminori Terui, Tomohiko Sato, Takuya Kamio, Hirotoshi Sakaguchi, Shouichi Ohga, Madoka Kuramitsu, Isao Hamaguchi, Akira Ohara, Hitoshi Kanno, Satoru Miyano, Seiji Kojima, Akira Ishiguro, Kanji Sugita, Naoya Kenmochi, Satoru Takahashi, Koji Eto, Seishi Ogawa, Etsuro Ito

Am J Hum Genet. 2018 Sep 6; 103(3): 440–447. Published online 2018 Aug 23. doi: 10.1016/j.ajhg.2018.07.020

PMCID:: PMC6128301

Abstract Article PDF–1.6M

Select item 601445415.

ERCC6L2‐associated inherited bone marrow failure syndrome

Iren Shabanova, Elisa Cohen, Michaela Cada, Ajoy Vincent, Ronald D. Cohn, Yigal Dror

Mol Genet Genomic Med. 2018 May; 6(3): 463–468. Published online 2018 Apr 6. doi: 10.1002/mgg3.388

PMCID:: PMC6014454

Abstract Article PDF–458K

Select item 587323816.

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H. Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier

Blood Adv. 2018 Mar 27; 2(6): 586–596. Published online 2018 Mar 14. doi: 10.1182/bloodadvances.2018016501

PMCID:: PMC5873238

Abstract Article PDF–1.0M

Select item 577718817.

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S Rosenberg

Haematologica. 2018 Jan; 103(1): 30–39. Prepublished online 2017 Oct 19. doi: 10.3324/haematol.2017.178111

PMCID:: PMC5777188

Abstract Article PDF–632K

Select item 572494918.

Bactériémie à Kingella denitrificans chez un enfant suivi pour un syndrome d’insuffisance médullaire

Abdeslam Hiddou, Yassine Zemmrani, Yassine Ahroui, Nabila Soraa

Pan Afr Med J. 2017; 28: 83. French. Publication en ligne 2017 sept. 27. DOI : 10.11604/pamj.2017.28.83.13698

PMCID:: PMC5724949

Abstract Article PDF–317K

Select item 539129719.

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia

Nicholas E. Mamrak, Akiko Shimamura, Niall G. Howlett

Blood Rev. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Blood Rev. 2017 May; 31(3): 93–99. Published online 2016 Oct 13. doi: 10.1016/j.blre.2016.10.002

PMCID:: PMC5391297

Abstract Article PDF–695K

Select item 500543220.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

Hemanth Tummala, Amanda J. Walne, Mike Williams, Nicholas Bockett, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Rob Wynn, Thierry Leblanc, Jude Fitzgibbon, David P. Kelsell, David A. van Heel, Elspeth Payne, Vincent Plagnol, Inderjeet Dokal, Tom Vulliamy

Am J Hum Genet. 2016 Jul 7; 99(1): 115–124. Published online 2016 Jun 23. doi: 10.1016/j.ajhg.2016.05.002

PMCID:: PMC5005432

Abstract Article PDF–2.0M

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