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Page 1
Natural history of recessive inheritance of DMT1 mutations.
Iolascon A, Camaschella C, Pospisilova D, Piscopo C, Tchernia G, Beaumont C. Iolascon A, et al. Among authors: camaschella c. J Pediatr. 2008 Jan;152(1):136-9. doi: 10.1016/j.jpeds.2007.08.041. J Pediatr. 2008. PMID: 18154916
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: camaschella c. 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.
Iron refractory iron deficiency anemia.
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. De Falco L, et al. Among authors: camaschella c. Haematologica. 2013 Jun;98(6):845-53. doi: 10.3324/haematol.2012.075515. Haematologica. 2013. PMID: 23729726 Free PMC article. Review.
Natural history of congenital dyserythropoietic anemia type II.
Iolascon A, Delaunay J, Wickramasinghe SN, Perrotta S, Gigante M, Camaschella C. Iolascon A, et al. Among authors: camaschella c. Blood. 2001 Aug 15;98(4):1258-60. doi: 10.1182/blood.v98.4.1258. Blood. 2001. PMID: 11493480 Free article.
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).
De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A. De Falco L, et al. Among authors: camaschella c. Hum Mutat. 2010 May;31(5):E1390-405. doi: 10.1002/humu.21243. Hum Mutat. 2010. PMID: 20232450
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: camaschella c. Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25156943
284 results