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Identification of new BMP6 pro-peptide mutations in patients with iron overload.
Piubelli C, Castagna A, Marchi G, Rizzi M, Busti F, Badar S, Marchetti M, De Gobbi M, Roetto A, Xumerle L, Suku E, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Piubelli C, et al. Among authors: giorgetti a. Am J Hematol. 2017 Jun;92(6):562-568. doi: 10.1002/ajh.24730. Epub 2017 Apr 29. Am J Hematol. 2017. PMID: 28335084 Free article.
Genome-wide Membrane Protein Structure Prediction.
Piccoli S, Suku E, Garonzi M, Giorgetti A. Piccoli S, et al. Among authors: giorgetti a. Curr Genomics. 2013 Aug;14(5):324-9. doi: 10.2174/13892029113149990009. Curr Genomics. 2013. PMID: 24403851 Free PMC article.
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Badar S, et al. Among authors: giorgetti a. Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304. Am J Hematol. 2016. PMID: 26799139 Free article.
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jové-Buxeda E, Sanchez-Delgado J, Baena-Díez N, Burnyte B, Utkus A, Busti F, Kaubrys G, Suku E, Kowalczyk K, Karaszewski B, Porter JB, Pollard S, Eleftheriou P, Bignell P, Girelli D, Sanchez M. Vila Cuenca M, et al. Among authors: giorgetti a. Int J Mol Sci. 2020 Mar 30;21(7):2374. doi: 10.3390/ijms21072374. Int J Mol Sci. 2020. PMID: 32235485 Free PMC article.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: giorgetti a. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
362 results