De Bernardo C - Search Results

1

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

Létocart E, Le Gac G, Majore S, Ka C, Radio FC, Gourlaouen I, De Bernardo C, Férec C, Grammatico P. Létocart E, et al. Among authors: de bernardo c. Br J Haematol. 2009 Nov;147(3):379-85. doi: 10.1111/j.1365-2141.2009.07834.x. Epub 2009 Aug 25. Br J Haematol. 2009. PMID: 19709084 Free article.

2

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Andreani M, Radio FC, Testi M, De Bernardo C, Troiano M, Majore S, Bertucci P, Polchi P, Rosati R, Grammatico P. Andreani M, et al. Among authors: de bernardo c. Haematologica. 2009 Sep;94(9):1293-6. doi: 10.3324/haematol.2009.006270. Haematologica. 2009. PMID: 19734422 Free PMC article.

3

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Majore S, et al. Among authors: de bernardo c. Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):464-470. doi: 10.1016/j.bbadis.2017.11.006. Epub 2017 Nov 14. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29154924 Free article.

4

Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, De Bernardo C, Morrone A, Grammatico P. Radio FC, et al. Among authors: de bernardo c. Blood Cells Mol Dis. 2014 Feb-Mar;52(2-3):83-7. doi: 10.1016/j.bcmd.2013.08.003. Epub 2013 Sep 20. Blood Cells Mol Dis. 2014. PMID: 24055163

5

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Radio FC, et al. Among authors: de bernardo c. Blood Cells Mol Dis. 2015 Jun;55(1):71-5. doi: 10.1016/j.bcmd.2015.04.001. Epub 2015 Apr 16. Blood Cells Mol Dis. 2015. PMID: 25976471

6

Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient.

Ricerca BM, Radio FC, De Marinis L, De Bernardo C, Castori M, Sacco E, Grammatico P, Majore S. Ricerca BM, et al. Among authors: de bernardo c, de marinis l. Eur J Haematol. 2009 Nov;83(5):494-6. doi: 10.1111/j.1600-0609.2009.01297.x. Epub 2009 Jun 15. Eur J Haematol. 2009. PMID: 19549277 No abstract available.

7

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, De Bernardo C, Palka G, Grammatico P. Majore S, et al. Among authors: de bernardo c. Haematologica. 2006 Aug;91(8 Suppl):ECR33. Haematologica. 2006. PMID: 16923517

8

Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction?

Majore S, Ricerca BM, Radio FC, Binni F, Cosentino I, Gallusi G, De Bernardo C, Morrone A, Grammatico P. Majore S, et al. Among authors: de bernardo c. Blood Cells Mol Dis. 2013 Jan;50(1):31-2. doi: 10.1016/j.bcmd.2012.08.007. Epub 2012 Sep 11. Blood Cells Mol Dis. 2013. PMID: 22981443 No abstract available.

9

The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.

Castori M, Morlino S, Radio FC, De Bernardo C, Grammatico P. Castori M, et al. Among authors: de bernardo c. Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038754 No abstract available.

10

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P. Bottillo I, et al. Among authors: de bernardo c. Gene. 2016 Feb 15;577(2):227-35. doi: 10.1016/j.gene.2015.11.048. Epub 2015 Dec 2. Gene. 2016. PMID: 26656175

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