Bonaglia MC - Search Results

1

Partial deletion of DEPDC5 in a child with focal epilepsy.

Bonaglia MC, Giorda R, Epifanio R, Bertuzzo S, Marelli S, Gerard M, Andrieux J, Zanotta N, Zucca C. Bonaglia MC, et al. Epilepsia Open. 2016 Aug 25;1(3-4):140-144. doi: 10.1002/epi4.12012. eCollection 2016 Dec. Epilepsia Open. 2016. PMID: 29588938 Free PMC 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

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. Cagliani R, et al. Among authors: bonaglia mc. Neuromuscul Disord. 2003 Dec;13(10):788-95. doi: 10.1016/s0960-8966(03)00133-0. Neuromuscul Disord. 2003. PMID: 14678801

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

Subtelomeric trisomy 21q: a new benign chromosomal variant.

Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O. Bonaglia MC, et al. Eur J Med Genet. 2007 Jan-Feb;50(1):54-9. doi: 10.1016/j.ejmg.2006.07.001. Epub 2006 Sep 10. Eur J Med Genet. 2007. PMID: 17055792

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

DNA methylation regulates tissue-specific expression of Shank3.

Beri S, Tonna N, Menozzi G, Bonaglia MC, Sala C, Giorda R. Beri S, et al. Among authors: bonaglia mc. J Neurochem. 2007 Jun;101(5):1380-91. doi: 10.1111/j.1471-4159.2007.04539.x. Epub 2007 Apr 10. J Neurochem. 2007. PMID: 17419801 Free article.

10

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O. Bonaglia MC, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):148-55. doi: 10.1016/j.ejmg.2007.11.005. Epub 2007 Dec 8. Eur J Med Genet. 2008. PMID: 18226592

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