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Page 1
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: guerneri s. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Giglio S, et al. Among authors: guerneri s. Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 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: guerneri 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.
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: guerneri s. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. De Gregori M, et al. Among authors: guerneri s. J Med Genet. 2007 Dec;44(12):750-62. doi: 10.1136/jmg.2007.052787. Epub 2007 Aug 31. J Med Genet. 2007. PMID: 17766364 Free PMC article.
57 results