Rossi E - Search Results

1

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.

2

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

3

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

4

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

5

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.

6

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O. Gana S, et al. Among authors: rossi e. Eur J Hum Genet. 2012 Aug;20(8):852-6. doi: 10.1038/ejhg.2012.19. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378287 Free PMC article.

7

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

8

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

9

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: rossi e. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279

10

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D. Rizzolio F, et al. Among authors: rossi e. Hum Reprod. 2006 Jun;21(6):1477-83. doi: 10.1093/humrep/dei495. Epub 2006 Feb 23. Hum Reprod. 2006. PMID: 16497693

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