Bonaglia MC - Search Results

1

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

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

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

Cagliani R, Bardoni A, Sironi M, Fortunato F, Prelle A, Felisari G, Bonaglia MC, D'Angelo MG, Moggio M, Bresolin N, Comi GP. Cagliani R, et al. Among authors: bonaglia mc. Neuromuscul Disord. 2003 Jan;13(1):13-6. doi: 10.1016/s0960-8966(02)00192-x. Neuromuscul Disord. 2003. PMID: 12467727

6

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

Gagliardi C, Bonaglia MC, Selicorni A, Borgatti R, Giorda R. Gagliardi C, et al. Among authors: bonaglia mc. J Med Genet. 2003 Jul;40(7):526-30. doi: 10.1136/jmg.40.7.526. J Med Genet. 2003. PMID: 12843326 Free PMC article. No abstract available.

7

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

8

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.

Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R. Bedeschi MF, et al. Among authors: bonaglia mc. Pediatr Neurol. 2006 Mar;34(3):186-93. doi: 10.1016/j.pediatrneurol.2005.08.008. Pediatr Neurol. 2006. PMID: 16504787

9

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

10

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

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