Bonaglia MC - Search Results

1

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: bonaglia mc. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.

2

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.

Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. Bonaglia MC, et al. Eur J Hum Genet. 2000 Aug;8(8):597-603. doi: 10.1038/sj.ejhg.5200509. Eur J Hum Genet. 2000. PMID: 10951522

3

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O. Bonaglia MC, et al. Am J Hum Genet. 2001 Aug;69(2):261-8. doi: 10.1086/321293. Epub 2001 Jun 18. Am J Hum Genet. 2001. PMID: 11431708 Free PMC article.

4

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb.

Bonaglia MC, Giorda R, Carrozzo R, Roncoroni ME, Grasso R, Borgatti R, Zuffardi O. Bonaglia MC, et al. Am J Med Genet. 2002 Oct 1;112(2):154-9. doi: 10.1002/ajmg.10699. Am J Med Genet. 2002. PMID: 12244548

5

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

Battisti C, Bonaglia MC, Giglio S, Anichini C, Pucci L, Dotti MT, Zuffardi O, Federico A. Battisti C, et al. Among authors: bonaglia mc. Am J Med Genet A. 2003 Mar 15;117A(3):207-11. doi: 10.1002/ajmg.a.10149. Am J Med Genet A. 2003. PMID: 12599183

6

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

Bonaglia MC, Giorda R, Tenconi R, Pessina M, Pramparo T, Borgatti R, Zuffardi O. Bonaglia MC, et al. Eur J Hum Genet. 2005 May;13(5):586-91. doi: 10.1038/sj.ejhg.5201369. Eur J Hum Genet. 2005. PMID: 15657611

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: bonaglia mc. 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

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

Giorda R, Ciccone R, Gimelli G, Pramparo T, Beri S, Bonaglia MC, Giglio S, Genuardi M, Argente J, Rocchi M, Zuffardi O. Giorda R, et al. Among authors: bonaglia mc. Hum Mutat. 2007 May;28(5):459-68. doi: 10.1002/humu.20465. Hum Mutat. 2007. PMID: 17262805

9

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O. Bonaglia MC, et al. Eur J Hum Genet. 2009 Feb;17(2):179-86. doi: 10.1038/ejhg.2008.160. Epub 2008 Sep 24. Eur J Hum Genet. 2009. PMID: 18813332 Free PMC article.

10

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Giorda R, et al. Among authors: bonaglia mc. Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716111 Free PMC article.

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