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High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).
Willig TN, Pérignon JL, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan JL, Chenel C, Cartron JP, Dahl N, Tchernia G. Willig TN, et al. Among authors: dahl n. Blood. 1998 Dec 1;92(11):4422-7. Blood. 1998. PMID: 9834249 Free article.
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. Draptchinskaia N, et al. Among authors: dahl n. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951. Nat Genet. 1999. PMID: 9988267
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnett HH, Shafer FE, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Goringe A, Olivieri NF, Smibert E, Tchernia G, Elinder G, Dahl N. Gustavsson P, et al. Among authors: dahl n. Am J Hum Genet. 1998 Nov;63(5):1388-95. doi: 10.1086/302100. Am J Hum Genet. 1998. PMID: 9792865 Free PMC article.
Diamond-Blackfan anaemia in the Italian population.
Ramenghi U, Garelli E, Valtolina S, Campagnoli MF, Timeus F, Crescenzio N, Mair M, Varotto S, D'Avanzo M, Nobili B, Massolo F, Mori PG, Locatelli F, Gustavsson P, Dahl N, Dianzani I. Ramenghi U, et al. Among authors: dahl n. Br J Haematol. 1999 Mar;104(4):841-8. doi: 10.1046/j.1365-2141.1999.01267.x. Br J Haematol. 1999. PMID: 10192448 Free article.
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. Boria I, et al. Among authors: dahl n. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. Hum Mutat. 2010. PMID: 20960466 Free PMC article.
Clinical utility gene card for: Diamond Blackfan anemia.
Vlachos A, Dahl N, Dianzani I, Lipton JM. Vlachos A, et al. Among authors: dahl n. Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.247. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248735 Free PMC article. No abstract available.
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