Bonaglia MC - Search Results

1

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

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

Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1.

Galli-Stauber C, Raho G, Rossi D, Corona DF, Pirola B, Bonaglia MC, Zuffardi O, Sorrentino V. Galli-Stauber C, et al. Among authors: bonaglia mc. FEBS Lett. 1998 Apr 17;426(2):279-82. doi: 10.1016/s0014-5793(98)00361-5. FEBS Lett. 1998. PMID: 9599024 Free article.

4

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. Giglio S, et al. Among authors: bonaglia mc. Circulation. 2000 Jul 25;102(4):432-7. doi: 10.1161/01.cir.102.4.432. Circulation. 2000. PMID: 10908216

5

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

6

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.

7

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.

8

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

9

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.

10

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.

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