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Diamond-Blackfan Anaemia: an overview.
Dianzani I, Garelli E, Ramenghi U. Dianzani I, et al. Paediatr Drugs. 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. Paediatr Drugs. 2000. PMID: 11022796 Review.
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A. Garelli E, et al. Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. Br J Haematol. 2019. PMID: 30460677 No abstract available.
Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry.
Fagioli F, Quarello P, Zecca M, Lanino E, Corti P, Favre C, Ripaldi M, Ramenghi U, Locatelli F, Prete A. Fagioli F, et al. Br J Haematol. 2014 Jun;165(5):673-81. doi: 10.1111/bjh.12787. Epub 2014 Feb 24. Br J Haematol. 2014. PMID: 24611452
Cyclosporin A response and dependence in children with acquired aplastic anaemia: a multicentre retrospective study with long-term observation follow-up.
Saracco P, Quarello P, Iori AP, Zecca M, Longoni D, Svahn J, Varotto S, Del Vecchio GC, Dufour C, Ramenghi U, Bacigalupo A, Locasciulli A; Bone Marrow Failure Study Group of the AIEOP (Italian Association of Paediatric Haematology Oncology). Saracco P, et al. Br J Haematol. 2008 Jan;140(2):197-205. doi: 10.1111/j.1365-2141.2007.06903.x. Br J Haematol. 2008. PMID: 18173756 Clinical Trial.
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Vlachos A, et al. Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30. Br J Haematol. 2008. PMID: 18671700 Free PMC article.
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.
Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I. Aspesi A, et al. Sci Rep. 2017 Sep 20;7(1):12010. doi: 10.1038/s41598-017-12307-5. Sci Rep. 2017. PMID: 28931864 Free PMC article.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Da Costa L, et al. Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Eur J Med Genet. 2018. PMID: 29081386 Review.
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.
Campagnoli MF, Garelli E, Quarello P, Carando A, Varotto S, Nobili B, Longoni D, Pecile V, Zecca M, Dufour C, Ramenghi U, Dianzan I. Campagnoli MF, et al. Haematologica. 2004 Apr;89(4):480-9. Haematologica. 2004. PMID: 15075082
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Campagnoli MF, et al. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A, Betti M, Sculco M, Actis C, Olgasi C, Wlodarski MW, Vlachos A, Lipton JM, Ramenghi U, Santoro C, Follenzi A, Ellis SR, Dianzani I. Aspesi A, et al. Hum Mutat. 2018 Aug;39(8):1102-1111. doi: 10.1002/humu.23551. Epub 2018 May 28. Hum Mutat. 2018. PMID: 29766597 Free PMC article.
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