Rossi E - Search Results

1

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: rossi e. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.

2

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O. Rossi E, et al. Am J Med Genet A. 2005 Mar 1;133A(2):189-92. doi: 10.1002/ajmg.a.30519. Am J Med Genet A. 2005. PMID: 15669096

3

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O. Concolino D, et al. Among authors: rossi e. J Med Genet. 2007 Oct;44(10):647-50. doi: 10.1136/jmg.2007.050963. J Med Genet. 2007. PMID: 17911656 Free PMC article.

4

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.

Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O. Rossi E, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):631-8. doi: 10.1016/j.ejmg.2008.06.010. Epub 2008 Jul 16. Eur J Med Genet. 2008. PMID: 18675947

5

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G. Zollino M, et al. Among authors: rossi e. Am J Med Genet A. 2003 Feb 15;117A(1):65-71. doi: 10.1002/ajmg.a.10068. Am J Med Genet A. 2003. PMID: 12548742

6

Reciprocal translocations: a trap for cytogenetists?

Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Ciccone R, et al. Among authors: rossi e. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583

7

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.

Pezzolo A, Rossi E, Gimelli S, Parodi F, Negri F, Conte M, Pistorio A, Sementa A, Pistoia V, Zuffardi O, Gambini C. Pezzolo A, et al. Among authors: rossi e. Neuro Oncol. 2009 Apr;11(2):192-200. doi: 10.1215/15228517-2008-086. Epub 2008 Oct 15. Neuro Oncol. 2009. PMID: 18923191 Free PMC article.

8

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.

Ye M, Xu L, Fu M, Chen D, Mattina T, Zufardi O, Rossi E, Bush KT, Nigam SK, Grossfeld P. Ye M, et al. Among authors: rossi e. Am J Med Genet A. 2019 Jan;179(1):71-77. doi: 10.1002/ajmg.a.40481. Epub 2018 Nov 13. Am J Med Genet A. 2019. PMID: 30422383

9

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. Novara F, et al. Among authors: rossi e. Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12. Am J Med Genet A. 2014. PMID: 24819041

10

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

Rossi E, Giorda R, Bonaglia MC, Candia SD, Grechi E, Franzese A, Soli F, Rivieri F, Patricelli MG, Saccilotto D, Bonfante A, Giglio S, Beri S, Rocchi M, Zuffardi O. Rossi E, et al. PLoS One. 2012;7(6):e39180. doi: 10.1371/journal.pone.0039180. Epub 2012 Jun 14. PLoS One. 2012. PMID: 22720067 Free PMC article.

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