Art

J-GLOBAL ID：201802215735709023   Reference number：18A1570668

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia

del(20q)骨髄異形成を発症したDiamond-Blackfan貧血の患者における異型赤芽球症

Author (12)： SONODA Motoshi (Kyushu Univ., Fukuoka, JPN) ,  ISHIMURA Masataka (Kyushu Univ., Fukuoka, JPN) ,  ICHIMIYA Yuko (Kyushu Univ., Fukuoka, JPN) ,  TERASHI Eiko (Kyushu Univ., Fukuoka, JPN) ,  EGUCHI Katsuhide (Kyushu Univ., Fukuoka, JPN) ,  SAKAI Yasunari (Kyushu Univ., Fukuoka, JPN) ,  TAKADA Hidetoshi (Kyushu Univ., Fukuoka, JPN) ,  HAMA Asahito (Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  KANNO Hitoshi (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  TOKI Tsutomu (Hirosaki Univ. Graduate School of Medicine, Hirosaki, JPN) ,  ITO Etsuro (Hirosaki Univ. Graduate School of Medicine, Hirosaki, JPN) ,  OHGA Shouichi (Kyushu Univ., Fukuoka, JPN)
Material： International Journal of Hematology  (Int J Hematol)
Volume： 108  Issue： 2  Page： 228-231  Publication year： Aug. 2018 
JST Material Number： F0888A  ISSN： 0925-5710  CODEN： IJHEEY  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *Bone marrow dysplasia ,...

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JST classification (1)： Hematologic diseases  (GK03000F)

Reference (23)：

• Wegman-Ostrosky T, Savage SA. The genomics of inherited bone marrow failure: from mechanism to the clinic. Br J Haematol. 2017;177:526-42.
• Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, et al. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica. 2017;102:E93-6.
• Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet Part A. 2014;164:2240-9.
• Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122:2439-43.
• Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142:859-76.

Terms in the title (5)： 骨髄異形成 ,  発症 ,  Diamond-Blackfan貧血 ,  患者 ,  異型