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89 results
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Liver damage and sickle cell disease: genotype relationship.
Bortolotti M, D'Ambrosio R, Fraquelli M, Pedrotti P, Consonni D, Migone De Amicis M, Scaramellini N, Di Pierro E, Graziadei G. Bortolotti M, et al. Among authors: di pierro e. Ann Hematol. 2020 Sep;99(9):2065-2072. doi: 10.1007/s00277-020-04113-3. Epub 2020 Jun 22. Ann Hematol. 2020. PMID: 32572524
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro E, Besana V, Brancaleoni V, Fasulo MR, Cesaretti C, Cappellini MD. Di Pierro E, et al. Hum Genet. 2009 Apr;125(3):347. Hum Genet. 2009. PMID: 19320027 No abstract available.
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.
Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.
Shamoon RP, Al-Allawi NA, Cappellini MD, Di Pierro E, Brancaleoni V, Granata F. Shamoon RP, et al. Among authors: di pierro e. Hemoglobin. 2015;39(3):178-83. doi: 10.3109/03630269.2015.1032415. Epub 2015 Apr 22. Hemoglobin. 2015. PMID: 25902180
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.
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.
Li C, Di Pierro E, Brancaleoni V, Cappellini MD, Steensma DP. Li C, et al. Among authors: di pierro e. Clin Chem Lab Med. 2009;47(1):44-6. doi: 10.1515/CCLM.2009.010. Clin Chem Lab Med. 2009. PMID: 19055472
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.
A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait.
Maakaron JE, Abdel Malak O, Itani S, Cappellini MD, Di Pierro E, Brancaleoni V, Granata F, Taher AT. Maakaron JE, et al. Among authors: di pierro e. Br J Dermatol. 2012 Sep;167(3):697-9. doi: 10.1111/j.1365-2133.2012.10954.x. Epub 2012 Jun 20. Br J Dermatol. 2012. PMID: 22429022 No abstract available.
Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro E, Patti E, Cappellini MD. Di Pierro E, et al. Hum Genet. 2004 Jul;115(2):172. Hum Genet. 2004. PMID: 15300980 No abstract available.
Gene 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):172. Hum Genet. 2004. PMID: 15300981 No abstract available.
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