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Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
Dalprà L, Giardino D, Finelli P, Corti C, Valtorta C, Guerneri S, Ilardi P, Fortuna R, Coviello D, Nocera G, Amico FP, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Barlati S, Bellotti D, Caufin D, Police A, Cavani S, Piombo G, Pierluigi M, Larizza L. Dalprà L, et al. Among authors: bonifacio s. Genet Med. 2005 Nov-Dec;7(9):620-5. doi: 10.1097/01.gim.0000182876.57766.2d. Genet Med. 2005. PMID: 16301863 Free article.
Possible case of Pitt-Hopkins syndrome in sibs.
Orrico A, Galli L, Zappella M, Lam CW, Bonifacio S, Torricelli F, Hayek G. Orrico A, et al. Among authors: bonifacio s. Am J Med Genet. 2001 Oct 1;103(2):157-9. doi: 10.1002/ajmg.1523. Am J Med Genet. 2001. PMID: 11568923
Predictors of Death or Severe Impairment in Neonates With Hypoxic-Ischemic Encephalopathy.
Glass HC, Wood TR, Comstock BA, Numis AL, Bonifacio SL, Cornet MC, Gonzalez FF, Morell A, Kolnik SE, Li Y, Mathur A, Mietzsch U, Wu TW, Wusthoff CJ, Thoresen M, Heagerty PJ, Juul SE, Wu YW. Glass HC, et al. Among authors: bonifacio sl. JAMA Netw Open. 2024 Dec 2;7(12):e2449188. doi: 10.1001/jamanetworkopen.2024.49188. JAMA Netw Open. 2024. PMID: 39636636 Free PMC article.
Consensus definition and diagnostic criteria for neonatal encephalopathy-study protocol for a real-time modified delphi study.
Branagan A, Hurley T, Quirke F, Devane D, Taneri PE, Badawi N, Sinha B, Bearer C, Bloomfield FH, Bonifacio SL, Boylan G, Campbell SK, Chalak L, D'Alton M, deVries LS, El Dib M, Ferriero DM, Gale C, Gressens P, Gunn AJ, Kay S, Maeso B, Mulkey SB, Murray DM, Nelson KB, Nesterenko TH, Pilon B, Robertson NJ, Walker K, Wusthoff CJ, Molloy EJ; Steering Group for DEFiNE (Definition of Neonatal Encephalopathy). Branagan A, et al. Among authors: bonifacio sl. Pediatr Res. 2024 Jun 20. doi: 10.1038/s41390-024-03303-3. Online ahead of print. Pediatr Res. 2024. PMID: 38902453
135 results