Riva P - Search Results

1

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

Longoni M, Moncini S, Cisternino M, Morella IM, Ferraiuolo S, Russo S, Mannarino S, Brazzelli V, Coi P, Zippel R, Venturin M, Riva P. Longoni M, et al. Among authors: riva p. Am J Med Genet A. 2010 Sep;152A(9):2176-84. doi: 10.1002/ajmg.a.33564. Am J Med Genet A. 2010. PMID: 20683980

2

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.

Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P. Bentivegna A, et al. Among authors: riva p. Hum Genet. 2001 Jul;109(1):48-54. doi: 10.1007/s004390100536. Hum Genet. 2001. PMID: 11479735

3

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

Gervasini C, Bentivegna A, Venturin M, Corrado L, Larizza L, Riva P. Gervasini C, et al. Among authors: riva p. Hum Genet. 2002 Apr;110(4):314-21. doi: 10.1007/s00439-002-0704-8. Epub 2002 Mar 20. Hum Genet. 2002. PMID: 11941479

4

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Venturin M, Gervasini C, Orzan F, Bentivegna A, Corrado L, Colapietro P, Friso A, Tenconi R, Upadhyaya M, Larizza L, Riva P. Venturin M, et al. Among authors: riva p. Hum Genet. 2004 Jun;115(1):69-80. doi: 10.1007/s00439-004-1101-2. Epub 2004 Apr 21. Hum Genet. 2004. PMID: 15103551

5

Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.

Venturin M, Bentivegna A, Moroni R, Larizza L, Riva P. Venturin M, et al. Among authors: riva p. Ann Hum Genet. 2005 Sep;69(Pt 5):508-16. doi: 10.1111/j.1529-8817.2005.00203.x. Ann Hum Genet. 2005. PMID: 16138909

6

Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements.

Portera G, Venturin M, Patrizi A, Martinoli E, Riva P, Dalprà L. Portera G, et al. Among authors: riva p. J Hum Genet. 2006;51(1):68-75. doi: 10.1007/s10038-005-0326-9. Epub 2005 Dec 3. J Hum Genet. 2006. PMID: 16328081

7

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: riva p. Neurogenetics. 2006 Mar;7(1):59-66. doi: 10.1007/s10048-005-0026-9. Epub 2006 Jan 20. Neurogenetics. 2006. PMID: 16425041 Free article.

8

Expression study of the target receptor tyrosine kinase of Imatinib mesylate in skull base chordomas.

Orzan F, Terreni MR, Longoni M, Boari N, Mortini P, Doglioni C, Riva P. Orzan F, et al. Among authors: riva p. Oncol Rep. 2007 Jul;18(1):249-52. Oncol Rep. 2007. PMID: 17549375 Free article.

9

The 3' untranslated region of human Cyclin-Dependent Kinase 5 Regulatory subunit 1 contains regulatory elements affecting transcript stability.

Moncini S, Bevilacqua A, Venturin M, Fallini C, Ratti A, Nicolin A, Riva P. Moncini S, et al. Among authors: riva p. BMC Mol Biol. 2007 Dec 3;8:111. doi: 10.1186/1471-2199-8-111. BMC Mol Biol. 2007. PMID: 18053171 Free PMC article.

10

Evaluation of 1p36 markers and clinical outcome in a skull base chordoma study.

Longoni M, Orzan F, Stroppi M, Boari N, Mortini P, Riva P. Longoni M, et al. Among authors: riva p. Neuro Oncol. 2008 Feb;10(1):52-60. doi: 10.1215/15228517-2007-048. Epub 2007 Dec 19. Neuro Oncol. 2008. PMID: 18094369 Free PMC article.

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