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A familial case of chromosome 16p variant.
Croci G, Camurri L, Franchi F. Croci G, et al. Among authors: franchi f. J Med Genet. 1991 Jan;28(1):60. doi: 10.1136/jmg.28.1.60. J Med Genet. 1991. PMID: 1999838 Free PMC article. No abstract available.
Unexpected results in the constitution of small supernumerary marker chromosomes.
Vetro A, Manolakos E, Petersen MB, Thomaidis L, Liehr T, Croci G, Franchi F, Marinelli M, Meneghelli E, Dal Bello B, Cesari S, Iasci A, Arrigo G, Zuffardi O. Vetro A, et al. Among authors: franchi f. Eur J Med Genet. 2012 Mar;55(3):185-90. doi: 10.1016/j.ejmg.2012.01.010. Epub 2012 Jan 28. Eur J Med Genet. 2012. PMID: 22342433 Free article.
De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: franchi f. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
Tetrasomy 9p confirmed by GALT.
Balestrazzi P, Croci G, Frassi C, Franchi F, Giovannelli G. Balestrazzi P, et al. Among authors: franchi f. J Med Genet. 1983 Oct;20(5):396-9. doi: 10.1136/jmg.20.5.396. J Med Genet. 1983. PMID: 6644773 Free PMC article.
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: franchi f. Genet Med. 2005 Nov-Dec;7(9):620-5. doi: 10.1097/01.gim.0000182876.57766.2d. Genet Med. 2005. PMID: 16301863 Free article.
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Vetro A, et al. Among authors: franchi f. Clin Genet. 2018 Mar;93(3):545-556. doi: 10.1111/cge.13060. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28556904
Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis.
Guareschi E, Garavelli L, Pedori S, Di Lernia V, Grenzi L, Franchi F, Marinelli M, Croci GF, Pedretti E, Amarri S, Banchini G, Albertini G. Guareschi E, et al. Among authors: franchi f. Pediatr Dermatol. 2007 Jul-Aug;24(4):426-8. doi: 10.1111/j.1525-1470.2007.00469.x. Pediatr Dermatol. 2007. PMID: 17845177 No abstract available.
699 results