Genetic deletions in AML and MDS.
Ebert BL.Best Pract Res Clin Haematol. 2010 Dec;23(4):457-61. Epub 2010 Nov 4.PMID: 21130407 [PubMed – in process]

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. Hum Mutat. 2010 Dec;31(12):1269-79.PMID: 20960466 [PubMed – in process]

Diamond Blackfan Anaemia and Isolated Cleft Palate.
Macey G, Azzawi K. Cleft Palate Craniofac J. 2010 Nov 19. [Epub ahead of print]PMID: 21117964 [PubMed – as supplied by publisher]

Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects.
Danilova N, Sakamoto KM, Lin S. Br J Haematol. 2011 Jan;152(2):217-28. doi: 10.1111/j.1365-2141.2010.08396.x. Epub 2010 Nov 29. PMID: 21114664 [PubMed – indexed for MEDLINE]

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.
Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA. Aging (Albany NY). 2010 Nov;2(11):867-74.PMID: 21113082 [PubMed – in process]

Outcomes after related and unrelated umbilical cord blood transplantation for non-Fanconi hereditary bone marrow failure.
Bizzetto R, Bonfim C, Rocha V, Socie’ G, Locatelli F, Chan K, Ramirez O, Stein J, Nabhan S, Miranda E, Passweg J, de Souza CA, Gluckman E. Haematologica. Haematologica. 2011 Jan;96(1):134-41. Epub 2010 Nov 11. PMID: 21071499 [PubMed – in process]

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells.
Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, Megerdichian C, Wilson FH, Currie T, Khanna-Gupta A, Berliner N, Kutok JL, Ebert BL. Blood. 2011 Mar 3;117(9):2567-76. Epub 2010 Nov 10.PMID: 21068437 [PubMed – in process]

Do ribosomopathies explain some cases of common variable immunodeficiency?
Khan S, Pereira J, Darbyshire PJ, Holding S, Doré PC, Sewell WA, Huissoon A. Clin Exp Immunol. 2011 Jan;163(1):96-103. doi: 10.1111/j.1365-2249.2010.04280.x. Epub 2010 Nov 9.PMID: 21062271 [PubMed – in process]

Tyrosine 87 is vital for the activity of human protein arginine methyltransferase 3 (PRMT3).
Handrkova H, Petrak J, Halada P, Pospisilova D, Cmejla R. Biochim Biophys Acta. 2010 Nov 5. [Epub ahead of print]PMID: 21059412 [PubMed – as supplied by publisher]

Neutrophil functions in patients with inherited bone marrow failure syndromes.
Rochowski A, Sun C, Glogauer M, Alter BP. Pediatr Blood Cancer. 2010 Nov 5. [Epub ahead of print]PMID: 21058292 [PubMed – as supplied by publisher]

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia.
Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. J Med Genet. 2010 Nov;47(11):777-81. Epub 2010 Oct 4.PMID: 20921022 [PubMed – in process]

Molecular pathogenesis in Diamond-Blackfan anemia.
Ito E, Konno Y, Toki T, Terui K. Int J Hematol. 2010 Oct;92(3):413-8. Epub 2010 Sep 30.PMID: 20882441 [PubMed – in process]

Pulmonary Embolism After Snake Bite in a Child With Diamond-Blackfan Anemia.
Makis A, Kattamis A, Grammeniatis V, Sihlimiri P, Kotsonis H, Iliadis A, Siamopoulou A, Chaliasos N. J Pediatr Hematol Oncol. 2010 Sep 28. [Epub ahead of print]PMID: 20881870 [PubMed – as supplied by publisher]

Epidemiology of rare anaemias in Europe.
Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL. Adv Exp Med Biol. 2010;686:375-96. Review.PMID: 20824457 [PubMed – indexed for MEDLINE]

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.
O’Donohue MF, Choesmel V, Faubladier M, Fichant G, Gleizes PE. J Cell Biol. 2010 Sep 6;190(5):853-66.PMID: 20819938 [PubMed – indexed for MEDLINE]

Johanson-Blizzard syndrome with Diamond-Blackfan anemia.
Saeed M, Rana MN, Ahmad TM. J Coll Physicians Surg Pak. 2010 Sep;20(9):627-8.PMID: 20810061 [PubMed – indexed for MEDLINE]

[Impaired ribosomal protein and bone marrow failure].
Hamaguchi I.Rinsho Ketsueki. 2010 Aug;51(8):638-45. Review. Japanese. No abstract available. PMID: 20805670 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T. Transfus Clin Biol. 2010 Sep;17(3):112-9. Epub 2010 Jul 23.PMID: 20655265 [PubMed – in process]

How I treat Diamond-Blackfan anemia.
Vlachos A, Muir E. Blood. 2010 Nov 11;116(19):3715-23. Epub 2010 Jul 22. Review.PMID: 20651069 [PubMed – indexed for MEDLINE]

Primary Chordoid Meningioma of the Lung.
Petscavage JM, Richardson ML, Nett M, Hoch B. J Thorac Imaging. 2010 Jul 14. [Epub ahead of print]PMID: 20634760 [PubMed – as supplied by publisher]

High-throughput profiling of amino acids in strains of the Saccharomyces cerevisiae deletion collection.
Cooper SJ, Finney GL, Brown SL, Nelson SK, Hesselberth J, MacCoss MJ, Fields S. Genome Res. 2010 Sep;20(9):1288-96. Epub 2010 Jul 7.PMID: 20610602 [PubMed – in process]

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
Devlin EE, Dacosta L, Mohandas N, Elliott G, Bodine DM. Blood. 2010 Oct 14;116(15):2826-35. Epub 2010 Jul 6.PMID: 20606162 [PubMed – indexed for MEDLINE]

[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. Review. Korean. PMID: 20603584 [PubMed – indexed for MEDLINE]

Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.
van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):461-5.PMID: 20544538 [PubMed – indexed for MEDLINE]

[Diamond-Blackfan anemia. Case report].
Salariu M, Miron I, Tansanu I. Rev Med Chir Soc Med Nat Iasi. 2010 Apr-Jun;114(2):420-3. Romanian. PMID: 20700978 [PubMed – indexed for MEDLINE]

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi S, Allen C, Klaassen R, Fernandez C, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton J, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand J, Beyene J, Dror Y.Clin Genet. 2010 May 22. doi: 10.1111/j.1399-0004.2010.01468.x. [Epub ahead of print]PMID: 20569259 [PubMed – as supplied by publisher]

Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism.
Chiabrando D, Tolosano E. Adv Hematol. 2010;2010:790632. Epub 2010 May 5.PMID: 20454576 [PubMed – in process]

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Br J Haematol. 2010 Jul;150(2):179-88. Epub 2010 Apr 30.PMID: 20507306 [PubMed – indexed for MEDLINE]

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.
Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP. Haematologica. 2010 Aug;95(8):1300-7. Epub 2010 Apr 30.PMID: 20435624 [PubMed – in process]

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.
Schuster J, Fröjmark AS, Nilsson P, Badhai J, Virtanen A, Dahl N. Blood Cells Mol Dis. 2010 Apr 13. [Epub ahead of print]PMID: 20395159 [PubMed – as supplied by publisher]

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
Song MJ, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH. Pediatr Blood Cancer. 2010 Apr;54(4):629-31.PMID: 19953637 [PubMed – indexed for MEDLINE]

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, Ohga S, Hara T, Hama A, Kojima S, Hasegawa D, Kosaka Y, Yanagisawa R, Koike K, Kanai R, Imai T, Hongo T, Park MJ, Sugita K, Ito E. Haematologica. 2010 Apr 7. [Epub ahead of print]PMID: 20378560 [PubMed – as supplied by publisher]

Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Hoefele J, Bertrand AM, Stehr M, Leblanc T, Tchernia G, Simansour M, Mignot B, Alberer M, Schwarz HP, Da Costa L; on the behalf of the SHIP. Pediatr Nephrol. 2010 Apr 1. [Epub ahead of print]PMID: 20358230 [PubMed – as supplied by publisher]

Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemia.
Park JA, Lim YJ, Park HJ, Kong SY, Park BK, Ghim TT. J Korean Med Sci. 2010 Apr;25(4):626-9. Epub 2010 Mar 19.PMID: 20358009 [PubMed – in process]Free PMC Article

Ribosomopathies: human disorders of ribosome dysfunction.
Narla A, Ebert BL. Blood. 2010 Apr 22;115(16):3196-205. Epub 2010 Mar 1.PMID: 20194897 [PubMed – in process]

Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis.
Tabata S, Mori M, Nagai Y, Hashimoto H, Arima H, Nagano S, Takiuchi Y, Inoue D, Kimura T, Shimoji S, Yanagita S, Ito K, Matsushita A, Nagai K, Takahashi T. Intern Med. 2010;49(5):453-6. Epub 2010 Mar 1.PMID: 20190482 [PubMed – in process]

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Ophthalmology. 2010 Mar;117(3):615-22. Epub 2009 Dec 22.PMID: 20022637 [PubMed – indexed for MEDLINE]

Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.
Lipton JM, Ellis SR. Curr Opin Pediatr. 2010 Feb;22(1):12-9. Review.PMID: 19915471 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Haematologica. 2010 Feb;95(2):206-13. Epub 2009 Sep 22.PMID: 19773262 [PubMed – in process]

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L, Sheen MR, Vlachos A, Choesmel V, O’Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. Am J Hum Genet. 2010 Feb 12;86(2):222-8. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655. PMID: 20116044 [PubMed – indexed for MEDLINE]

Getting by with a little help from our friends.
Weiss MJ. Curr Opin Pediatr. 2010 Feb;22(1):1. No abstract available. PMID: 20068412 [PubMed – indexed for MEDLINE]

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
Crétien A, Proust A, Delaunay J, Rincé P, Leblanc T, Ducrocq R, Simansour M, Marie I, Tamary H, Meerpohl J, Niemeyer C, Gazda H, Sieff C, Ball S, Tchernia G, Mohandas N, Da Costa L. Am J Hematol. 2010 Feb;85(2):111-6.PMID: 20054847 [PubMed – indexed for MEDLINE]

Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available.
Bellavia M, Von Der Weid N, Peddes C, Jacquemont S, Liebaers I, Hohlfeld P, Wunder-Galié D, de Ziegler D. Fertil Steril. 2010 Jan 12. [Epub ahead of print]PMID: 20074727 [PubMed – as supplied by publisher]

The rise of a ribosomopathy and increased cancer risk.
Luft F. J Mol Med. 2010 Jan;88(1):1-3. Epub 2009 Dec 12. No abstract available. PMID: 20012593 [PubMed – indexed for MEDLINE]

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.
Fröjmark AS, Badhai J, Klar J, Thuveson M, Schuster J, Dahl N. J Mol Med. 2010 Jan;88(1):39-46. Epub 2009 Nov 8.PMID: 19898770 [PubMed – indexed for MEDLINE]