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DiGeorge anomaly associated with 10p deletion.
Monaco G, Pignata C, Rossi E, Mascellaro O, Cocozza S, Ciccimarra F. Monaco G, et al. Among authors: rossi e. Am J Med Genet. 1991 May 1;39(2):215-6. doi: 10.1002/ajmg.1320390220. Am J Med Genet. 1991. PMID: 2063928
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: rossi e. 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.
Trisomy 10qter confirmed by in situ hybridisation.
Briscioli V, Floridia G, Rossi E, Selicorni A, Lalatta F, Zuffardi O. Briscioli V, et al. Among authors: rossi e. J Med Genet. 1993 Jul;30(7):601-3. doi: 10.1136/jmg.30.7.601. J Med Genet. 1993. PMID: 8411036 Free PMC article.
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.
Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. Rossi E, et al. J Med Genet. 2001 Jun;38(6):417-20. doi: 10.1136/jmg.38.6.417. J Med Genet. 2001. PMID: 11424927 Free PMC article. No abstract available.
3,011 results