Martinez di Montemuros F - Search Results

1

Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.

Martinez di Montemuros F, Tavazzi D, Patti E, Cappellini MD. Martinez di Montemuros F, et al. Hum Genet. 2004 Jan;114(2):221. Hum Genet. 2004. PMID: 15046048 No abstract available.

2

Gene symbol: UROD. Disease: Porphyria, cutanea tarda.

Martinez di Montemuros F, Tavazzi D, Patti E, Cappellini MD. Martinez di Montemuros F, et al. Hum Genet. 2003 Sep;113(4):368. Hum Genet. 2003. PMID: 12974281 No abstract available.

3

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. Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):867-76. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 12699245

4

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Fars province of Iran.

Karimi M, Martinez di Montemuros F, Danielli MG, Farjadian S, Afrasiabi A, Fiorelli G, Cappellini MD. Karimi M, et al. Among authors: martinez di montemuros f. Haematologica. 2003 Mar;88(3):346-7. Haematologica. 2003. PMID: 12651275 No abstract available.

5

Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients.

Tavazzi D, Martinez di Montemuros F, Fargion S, Fracanzani AL, Fiorelli G, Cappellini MD. Tavazzi D, et al. Among authors: martinez di montemuros f. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):27-32. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929044

6

Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population.

Badens C, Martinez di Montemuros F, Thuret I, Michel G, Mattei JF, Cappellini MD, Lena-Russo D. Badens C, et al. Among authors: martinez di montemuros f. Hematol J. 2000;1(4):264-8. doi: 10.1038/sj.thj.6200042. Hematol J. 2000. PMID: 11920200

7

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. Blood Cells Mol Dis. 2001 Nov-Dec;27(6):961-70. doi: 10.1006/bcmd.2001.0466. Blood Cells Mol Dis. 2001. PMID: 11831862

8

Hematologically important mutations: acute intermittent porphyria.

Cappellini MD, Martinez di Montemuros F, Di Pierro E, Fiorelli G. Cappellini MD, et al. Among authors: martinez di montemuros f. 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.

9

High frequency of the H63D mutation of the hemochromatosis gene (HFE) in malignant gliomas.

Martinez di Montemuros F, Tavazzi D, Salsano E, Piepoli T, Pollo B, Fiorelli G, Finocchiaro G. Martinez di Montemuros F, et al. Neurology. 2001 Oct 9;57(7):1342. doi: 10.1212/wnl.57.7.1342. Neurology. 2001. PMID: 11591868 No abstract available.

10

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

Cappellini MD, Martinez di Montemuros F, Tavazzi D, Fargion S, Pizzuti A, Comino A, Cainelli T, Fiorelli G. Cappellini MD, et al. Among authors: martinez di montemuros f. Hum Mutat. 2001 Apr;17(4):350. doi: 10.1002/humu.35. Hum Mutat. 2001. PMID: 11295834

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