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118 results

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Page 1
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: di pierro e. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Endothelial Dysfunction in Acute Hepatic Porphyrias.
Ricci A, Sandri G, Marcacci M, Di Pierro E, Granata F, Cuoghi C, Marchini S, Pietrangelo A, Ventura P. Ricci A, et al. Among authors: di pierro e. Diagnostics (Basel). 2022 May 24;12(6):1303. doi: 10.3390/diagnostics12061303. Diagnostics (Basel). 2022. PMID: 35741113 Free PMC article.
The role of hypoxia and inflammation in the regulation of iron metabolism and erythropoiesis in COVID-19: The IRONCOVID study.
Maira D, Duca L, Busti F, Consonni D, Salvatici M, Vianello A, Milani A, Guzzardella A, Di Pierro E, Aliberti S, Baldini IM, Bandera A, Blasi F, Cassinerio E, Cesari M, Fracanzani AL, Grasselli G, Graziadei G, Lombardi R, Marchi G, Montano N, Monzani V, Peyvandi F, Proietti M, Sandri M, Valenti L, Cappellini MD, Girelli D, Protti A, Motta I. Maira D, et al. Among authors: di pierro e. Am J Hematol. 2022 Nov;97(11):1404-1412. doi: 10.1002/ajh.26679. Epub 2022 Aug 15. Am J Hematol. 2022. PMID: 36215667 Free PMC article.
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P, Brancaleoni V, Di Pierro E, Graziadei G, Macrì A, Carmine Guida C, Nicolli A, Rossi MT, Granata F, Fiorentino V, Fustinoni S, Sala R, Pinton PC, Trevisan A, Marchini S, Cuoghi C, Marcacci M, Corradini E, Sorge F, Aurizi C, Savino MG, Cappellini MD, Pietrangelo A. Ventura P, et al. Among authors: di pierro e. Eur J Dermatol. 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. Eur J Dermatol. 2020. PMID: 33021473 Free article.
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
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.
118 results