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Items: 15

1.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT.

J Clin Invest. 2012 Jul;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18.

2.

Toward RNA Repair of Diamond Blackfan Anemia Hematopoietic Stem Cells.

D'Allard DL, Liu JM.

Hum Gene Ther. 2016 Oct;27(10):792-801. doi: 10.1089/hum.2016.081. Review.

PMID:
27550323
3.

GATA factor mutations in hematologic disease.

Crispino JD, Horwitz MS.

Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Review.

PMID:
28179280
4.

Recent insights into the pathogenesis of Diamond-Blackfan anaemia.

Gazda HT, Sieff CA.

Br J Haematol. 2006 Oct;135(2):149-57. Epub 2006 Aug 31. Review.

PMID:
16942586
5.

Diamond Blackfan anemia: a disorder of red blood cell development.

Ellis SR, Lipton JM.

Curr Top Dev Biol. 2008;82:217-41. doi: 10.1016/S0070-2153(07)00008-7. Review.

PMID:
18282522
6.

Diamond-Blackfan anemia: erythropoiesis lost in translation.

Flygare J, Karlsson S.

Blood. 2007 Apr 15;109(8):3152-4. Epub 2006 Dec 12. Review.

7.

Diamond Blackfan anemia: ribosomal proteins going rogue.

Ellis SR, Gleizes PE.

Semin Hematol. 2011 Apr;48(2):89-96. doi: 10.1053/j.seminhematol.2011.02.005. Review.

PMID:
21435505
8.

Modeling Diamond Blackfan anemia in the zebrafish.

Taylor AM, Zon LI.

Semin Hematol. 2011 Apr;48(2):81-8. doi: 10.1053/j.seminhematol.2011.02.002. Review.

PMID:
21435504
9.

Animal models of Diamond Blackfan anemia.

McGowan KA, Mason PJ.

Semin Hematol. 2011 Apr;48(2):106-16. doi: 10.1053/j.seminhematol.2011.02.001. Review.

10.

Diamond Blackfan anemia: a model for the translational approach to understanding human disease.

Vlachos A, Blanc L, Lipton JM.

Expert Rev Hematol. 2014 Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923. Epub 2014 Mar 26. Review.

PMID:
24665981
11.

[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].

Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE.

Med Sci (Paris). 2009 Jan;25(1):69-76. doi: 10.1051/medsci/200925169. Review. French.

12.

[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].

Chae H, Park J, Kim M, Lim J, Kim Y, Han K, Lee J, Chung NG, Cho B, Kim HK.

Korean J Lab Med. 2010 Jun;30(3):249-54. doi: 10.3343/kjlm.2010.30.3.249. Review. Korean.

13.

Molecular basis of Diamond-Blackfan anaemia: what have we learnt so far? Review article.

Cmejla R, Cmejlová J.

Sb Lek. 2003;104(2):171-81. Review.

PMID:
14577127
14.

[Connecting isolated congenital asplenia to the ribosome].

Bolze A.

Biol Aujourdhui. 2014;208(4):289-98. doi: 10.1051/jbio/2015001. Epub 2015 Apr 3. Review. French.

PMID:
25840456
15.

Erythro-megakaryocytic transcription factors associated with hereditary anemia.

Crispino JD, Weiss MJ.

Blood. 2014 May 15;123(20):3080-8. doi: 10.1182/blood-2014-01-453167. Epub 2014 Mar 20. Review.

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