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Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene.
De Falco L, Bruno M, Andolfo I, David BP, Girelli D, Di Noce F, Camaschella C, Iolascon A. De Falco L, et al. Among authors: bruno m. Br J Haematol. 2012 Nov;159(4):492-5. doi: 10.1111/bjh.12062. Epub 2012 Sep 27. Br J Haematol. 2012. PMID: 23016933 Free article. No abstract available.
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M. De Falco L, et al. Among authors: bruno m. Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25156943
The Interplay Between Peroxiredoxin-2 and Nuclear Factor-Erythroid 2 Is Important in Limiting Oxidative Mediated Dysfunction in β-Thalassemic Erythropoiesis.
Matte A, De Falco L, Iolascon A, Mohandas N, An X, Siciliano A, Leboeuf C, Janin A, Bruno M, Choi SY, Kim DW, De Franceschi L. Matte A, et al. Among authors: bruno m. Antioxid Redox Signal. 2015 Dec 1;23(16):1284-97. doi: 10.1089/ars.2014.6237. Epub 2015 Jul 14. Antioxid Redox Signal. 2015. PMID: 26058667 Free PMC article.
How I Diagnose Non-thalassemic Microcytic Anemias.
Bruno M, De Falco L, Iolascon A. Bruno M, et al. Semin Hematol. 2015 Oct;52(4):270-8. doi: 10.1053/j.seminhematol.2015.05.002. Epub 2015 Jun 3. Semin Hematol. 2015. PMID: 26404439 Review.
The role of Matriptase-2 during the early postnatal development in humans.
De Falco L, Bruno M, Yilmaz-Keskin E, Sal E, Büyükavci M, Kaya Z, Girelli D, Iolascon A. De Falco L, et al. Among authors: bruno m. Haematologica. 2016 Apr;101(4):e126-8. doi: 10.3324/haematol.2015.139808. Epub 2016 Jan 22. Haematologica. 2016. PMID: 26802052 Free PMC article. No abstract available.
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis.
Matte A, De Falco L, Federti E, Cozzi A, Iolascon A, Levi S, Mohandas N, Zamo A, Bruno M, Lebouef C, Janin A, Siciliano A, Ganz T, Federico G, Carlomagno F, Mueller S, Silva I, Carbone C, Melisi D, Kim DW, Choi SY, De Franceschi L. Matte A, et al. Among authors: bruno m. Antioxid Redox Signal. 2018 Jan 1;28(1):1-14. doi: 10.1089/ars.2017.7051. Epub 2017 Sep 6. Antioxid Redox Signal. 2018. PMID: 28793778
2,127 results