Bonati MT - Search Results

1

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.

Castronovo C, Crippa M, Bestetti I, Rusconi D, Russo S, Larizza L, Sangermani R, Bonati MT, Finelli P. Castronovo C, et al. Among authors: bonati mt. Am J Med Genet A. 2015 Jan;167A(1):221-30. doi: 10.1002/ajmg.a.36815. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339188 Review.

2

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

Finelli P, Natacci F, Bonati MT, Gottardi G, Engelen JJ, de Die-Smulders CE, Sala M, Giardino D, Larizza L. Finelli P, et al. Among authors: bonati mt. J Med Genet. 2004 Jul;41(7):e90. doi: 10.1136/jmg.2003.016311. J Med Genet. 2004. PMID: 15235033 Free PMC article. No abstract available.

3

Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.

Bonati MT, Finelli P, Giardino D, Gottardi G, Roberts W, Larizza L. Bonati MT, et al. Am J Med Genet A. 2005 Mar 1;133A(2):184-8. doi: 10.1002/ajmg.a.30503. Am J Med Genet A. 2005. PMID: 15666303

4

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Venturin M, Moncini S, Villa V, Russo S, Bonati MT, Larizza L, Riva P. Venturin M, et al. Among authors: bonati mt. Neurogenetics. 2006 Mar;7(1):59-66. doi: 10.1007/s10048-005-0026-9. Epub 2006 Jan 20. Neurogenetics. 2006. PMID: 16425041 Free article.

5

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L. Russo S, et al. Among authors: bonati mt. J Med Genet. 2006 Aug;43(8):e39. doi: 10.1136/jmg.2005.038398. J Med Genet. 2006. PMID: 16882733 Free PMC article.

6

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: bonati mt. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.

7

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

Finelli P, Pincelli AI, Russo S, Bonati MT, Recalcati MP, Masciadri M, Giardino D, Cavagnini F, Larizza L. Finelli P, et al. Among authors: bonati mt. Clin Genet. 2007 Mar;71(3):195-204. doi: 10.1111/j.1399-0004.2007.00752.x. Clin Genet. 2007. PMID: 17309641

8

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.

Bonati MT, Russo S, Finelli P, Valsecchi MR, Cogliati F, Cavalleri F, Roberts W, Elia M, Larizza L. Bonati MT, et al. Neurogenetics. 2007 Aug;8(3):169-78. doi: 10.1007/s10048-007-0086-0. Epub 2007 Apr 6. Neurogenetics. 2007. PMID: 17415598

9

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L. Russo S, et al. Among authors: bonati mt. Neurogenetics. 2009 Jul;10(3):241-50. doi: 10.1007/s10048-009-0177-1. Epub 2009 Feb 25. Neurogenetics. 2009. PMID: 19241098 Free article.

10

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

Guffanti G, Strik Lievers L, Bonati MT, Marchi M, Geronazzo L, Nardocci N, Estienne M, Larizza L, Macciardi F, Russo S. Guffanti G, et al. Among authors: bonati mt. Psychiatry Res. 2011 Jan 30;185(1-2):33-8. doi: 10.1016/j.psychres.2010.04.057. Epub 2010 Jul 6. Psychiatry Res. 2011. PMID: 20609483

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