Bonaglia MC - Search Results

1

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: bonaglia mc. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631

2

Assignment of the tenascin-R gene (Tnr) to mouse chromosome 4 band E2 by fluorescence in situ hybridization; refinement of the human TNR location to chromosome 1q24.

Arrigo G, Gherzi R, Bonaglia MC, Leprini A, Zuffardi O, Zardi L. Arrigo G, et al. Among authors: bonaglia mc. Cytogenet Cell Genet. 1997;78(2):145-6. doi: 10.1159/000134650. Cytogenet Cell Genet. 1997. PMID: 9371410 No abstract available.

3

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

4

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. Rossi E, et al. J Med Genet. 2001 Jun;38(6):417-20. doi: 10.1136/jmg.38.6.417. J Med Genet. 2001. PMID: 11424927 Free PMC article. No abstract available.

5

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.

6

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

7

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

8

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.

9

Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O. Bonaglia MC, et al. J Med Genet. 2003 Aug;40(8):e94. doi: 10.1136/jmg.40.8.e94. J Med Genet. 2003. PMID: 12920086 Free PMC article. No abstract available.

10

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

Giorda R, Cerritello A, Bonaglia MC, Bova S, Lanzi G, Repetti E, Giglio S, Baschirotto C, Pramparo T, Avolio L, Bragheri R, Maraschio P, Zuffardi O. Giorda R, et al. Among authors: bonaglia mc. J Med Genet. 2004 Jun;41(6):e71. doi: 10.1136/jmg.2003.012260. J Med Genet. 2004. PMID: 15173237 Free PMC article. No abstract available.

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