Di Pierro E - Search Results

1

Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

Di Pierro E, Brancaleoni V, Stanzial F, Benedicenti F, Castellan C, Cappellini MD. Di Pierro E, et al. Hum Genet. 2009 Aug;126(2):339. Hum Genet. 2009. PMID: 19694018 No abstract available.

2

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.

Martinez di Montemuros F, Di Pierro E, Fargion S, Biolcati G, Griso D, Macrì A, Fiorelli G, Cappellini MD. Martinez di Montemuros F, et al. Among authors: di pierro e. Hum Mutat. 2000 May;15(5):480. doi: 10.1002/(SICI)1098-1004(200005)15:5<480::AID-HUMU12>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10790212

3

Hematologically important mutations: acute intermittent porphyria.

Cappellini MD, Martinez di Montemuros F, Di Pierro E, Fiorelli G. Cappellini MD, et al. Among authors: di pierro e. Blood Cells Mol Dis. 2002 Jan-Feb;28(1):5-12. doi: 10.1006/bcmd.2001.0478. Blood Cells Mol Dis. 2002. PMID: 11814306 No abstract available.

4

Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.

Martinez di Montemuros F, Di Pierro E, Biolcati G, Rocchi E, Bissolotti E, Tavazzi D, Fiorelli G, Cappellini MD. Martinez di Montemuros F, et al. Among authors: di pierro e. Blood Cells Mol Dis. 2001 Nov-Dec;27(6):961-70. doi: 10.1006/bcmd.2001.0466. Blood Cells Mol Dis. 2001. PMID: 11831862

5

Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.

Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli MG, Biolcati G, Rocchi E, Cappellini MD. Martinez di Montemuros F, et al. Among authors: di pierro e. Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):867-76. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 12699245

6

Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic.

Di Pierro E, Moriondo V, Cappellini MD. Di Pierro E, et al. Hum Genet. 2004 Jan;114(2):221. Hum Genet. 2004. PMID: 15046047 No abstract available.

7

Gene symbol: HBMS. Disease: Porphyria, acute intermittent.

Di Pierro E, Roselli EA, Cappellini MD. Di Pierro E, et al. Hum Genet. 2004 May;114(6):607. Hum Genet. 2004. PMID: 15176381 No abstract available.

8

Gene Symbol: FECH. Disease: Porphyria, erythropoietic.

Di Pierro E, Moriondo V, Cappellini MD. Di Pierro E, et al. Hum Genet. 2004 May;114(6):608. Hum Genet. 2004. PMID: 15176387 No abstract available.

9

Gene Symbol: FECH. Disease: Porphyria, erythropoietic.

Di Pierro E, Moriondo V, Cappellini MD. Di Pierro E, et al. Hum Genet. 2004 May;114(6):609. Hum Genet. 2004. PMID: 15176393 No abstract available.

10

Gne symbol: PPOX. Disease: variegate porphyria.

Patti E, Di Pierro E, Cappellini MD. Patti E, et al. Among authors: di pierro e. Hum Genet. 2004 Jul;115(2):170. Hum Genet. 2004. PMID: 15300965 No abstract available.

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