Camaschella C - Search Results

1

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B. Silvestri L, et al. Among authors: camaschella c. Blood. 2009 May 28;113(22):5605-8. doi: 10.1182/blood-2008-12-195594. Epub 2009 Apr 8. Blood. 2009. PMID: 19357398 Free article.

2

Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations.

Bosio S, De Gobbi M, Roetto A, Zecchina G, Leonardo E, Rizzetto M, Lucetti C, Petrozzi L, Bonuccelli U, Camaschella C. Bosio S, et al. Among authors: camaschella c. Blood. 2002 Sep 15;100(6):2246-8. doi: 10.1182/blood-2002-02-0584. Blood. 2002. PMID: 12200392 Free article.

3

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).

Roetto A, Daraio F, Porporato P, Caruso R, Cox TM, Cazzola M, Gasparini P, Piperno A, Camaschella C. Roetto A, et al. Among authors: camaschella c. Blood. 2004 Mar 15;103(6):2407-9. doi: 10.1182/blood-2003-10-3390. Epub 2003 Nov 20. Blood. 2004. PMID: 14630809 Free article.

4

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C. Lanzara C, et al. Among authors: camaschella c. Blood. 2004 Jun 1;103(11):4317-21. doi: 10.1182/blood-2004-01-0192. Epub 2004 Feb 24. Blood. 2004. PMID: 14982873 Free article.

5

Hepcidin is decreased in TFR2 hemochromatosis.

Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C. Nemeth E, et al. Among authors: camaschella c. Blood. 2005 Feb 15;105(4):1803-6. doi: 10.1182/blood-2004-08-3042. Epub 2004 Oct 14. Blood. 2005. PMID: 15486069 Free article.

6

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.

Biasiotto G, Roetto A, Daraio F, Polotti A, Gerardi GM, Girelli D, Cremonesi L, Arosio P, Camaschella C. Biasiotto G, et al. Among authors: camaschella c. Blood Cells Mol Dis. 2004 Nov-Dec;33(3):338-43. doi: 10.1016/j.bcmd.2004.08.002. Blood Cells Mol Dis. 2004. PMID: 15528154

7

Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders.

Camaschella C. Camaschella C. Blood. 2005 Dec 1;106(12):3710-7. doi: 10.1182/blood-2005-05-1857. Epub 2005 Jul 19. Blood. 2005. PMID: 16030190 Free article. Review.

8

Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).

Iolascon A, d'Apolito M, Servedio V, Cimmino F, Piga A, Camaschella C. Iolascon A, et al. Among authors: camaschella c. Blood. 2006 Jan 1;107(1):349-54. doi: 10.1182/blood-2005-06-2477. Epub 2005 Sep 13. Blood. 2006. PMID: 16160008 Free article.

9

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.

Porto G, Roetto A, Daraio F, Pinto JP, Almeida S, Bacelar C, Nemeth E, Ganz T, Camaschella C. Porto G, et al. Among authors: camaschella c. Blood. 2005 Oct 15;106(8):2922-3. doi: 10.1182/blood-2005-04-1630. Blood. 2005. PMID: 16204153 Free article. No abstract available.

10

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.

Ferrari F, Foglieni B, Arosio P, Camaschella C, Daraio F, Levi S, García Erce JA, Beaumont C, Cazzola M, Ferrari M, Cremonesi L. Ferrari F, et al. Among authors: camaschella c. Hum Mutat. 2006 Feb;27(2):201-8. doi: 10.1002/humu.20294. Hum Mutat. 2006. PMID: 16395671

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