Literature DB >> 28834235

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.

David B Wilson1, Monica Bessler2,3, Thomas W Ferkol1, Shalini Shenoy1, Naoko Amano4, Tomohiro Ishii4, Hirohito Shima5, Satoshi Narumi5.   

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Year:  2017        PMID： 28834235     DOI： 10.1002/pbc.26747

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  4 in total

1.  Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.

Authors:  Jay Sarthy; Ji Zha; Daria Babushok; Archana Shenoy; Jian-Meng Fan; Gerald Wertheim; Adam Himebauch; Ashley Munchel; Agne Taraseviciute; Samuel Yang; Hirohito Shima; Satoshi Narumi; Soheil Meshinchi; Timothy S Olson
Journal:  Blood Adv       Date:  2018-01-23

2.  Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Authors:  Jenifer P Suntharalingham; Miho Ishida; Ignacio Del Valle; Susanne E Stalman; Nita Solanky; Emma Wakeling; Gudrun E Moore; John C Achermann; Federica Buonocore
Journal:  Front Endocrinol (Lausanne)       Date:  2022-08-18       Impact factor: 6.055

3.  A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.

Authors:  Sho Ishiwa; Koichi Kamei; Kanako Tanase-Nakao; Shinsuke Shibata; Kunihiro Matsunami; Ichiro Takeuchi; Mai Sato; Kenji Ishikura; Satoshi Narumi
Journal:  BMC Nephrol       Date:  2020-08-12       Impact factor: 2.388

4.  Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Authors:  Renata Formankova; Veronika Kanderova; Marketa Rackova; Michael Svaton; Tomas Brdicka; Petr Riha; Petra Keslova; Ester Mejstrikova; Marketa Zaliova; Tomas Freiberger; Hana Grombirikova; Zuzana Zemanova; Marcela Vlkova; Filip Fencl; Ivana Copova; Jiri Bronsky; Petr Jabandziev; Petr Sedlacek; Jana Soukalova; Ondrej Zapletal; Jan Stary; Jan Trka; Tomas Kalina; Karolina Skvarova Kramarzova; Eva Hlavackova; Jiri Litzman; Eva Fronkova
Journal:  Front Immunol       Date:  2019-09-18       Impact factor: 7.561
  4 in total

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