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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Among authors: bianco am. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Among authors: bianco amr. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
Determinants of weight, psychological status, food contemplation and lifestyle changes in patients with obesity during the COVID-19 lockdown: a nationwide survey using multiple correspondence analysis.
Caretto A, Pintus S, Petroni ML, Osella AR, Bonfiglio C, Morabito S, Zuliani P, Sturda A, Castronuovo M, Lagattolla V, Maghetti A, Lapini E, Bianco AM, Cisternino M, Cerutti N, Mulas CA, Hassan O, Cardamone N, Parillo M, Sonni L; ADI (Italian Dietetic and Clinical Nutrition Association) Foundation. Caretto A, et al. Among authors: bianco am. Int J Obes (Lond). 2022 Jul;46(7):1280-1287. doi: 10.1038/s41366-022-01100-8. Epub 2022 Mar 19. Int J Obes (Lond). 2022. PMID: 35306529 Free PMC article.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R, Marzollo A, Marinoni M, Athanasakis E, Persico I, Bianco AM, Faleschini M, Valencic E, Simoncini D, Rossini L, Corsolini F, La Bianca M, Robustelli G, Gabelli M, Agosti M, Biffi A, Grotto P, Bozzi V, Noris P, Burlina AB, D'Adamo AP, Tommasini A, Faletra F, Pastore A, Savoia A. Bottega R, et al. Among authors: bianco am. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
Notch Signaling Regulation in Autoinflammatory Diseases.
Gratton R, Tricarico PM, d'Adamo AP, Bianco AM, Moura R, Agrelli A, Brandão L, Zupin L, Crovella S. Gratton R, et al. Among authors: bianco am. Int J Mol Sci. 2020 Nov 23;21(22):8847. doi: 10.3390/ijms21228847. Int J Mol Sci. 2020. PMID: 33238371 Free PMC article. Review.
59 results