Sfoglia per Autore
Mapping of genes and EST to 17q11.2 to a YAC contig centered on the NF1 gene
2000 L. Corrado, P. Riva, M. Venturin, A. Bentivegna, C. Gervasini, L. Larizza
FISH with locus-specific probes on stretched chromosomes : a useful tool for genome organization studies
2001 A. Bentivegna, M. Venturin, C. Gervasini, L. Corrado, L. Larizza, P. Riva
Identification of duplicated genes in 17q11.2 by using FISH on stretched chromosomes and DNA fibers
2001 A. Bentivegna, M. Venturin, C. Gervasini, L. Corrado, L. Larizza, P. Riva
Erratum: Fish with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies (Chromosome reseach (2001) 9 (167-170))
2001 A. Bentivegna, M. Venturin, C. Gervasini, L. Corrado, L. Larizza, P. Riva
Genotype-phenotype correlation in patients with NF1 microdeletion syndrome : identification of candidate genes for mental retardation
2002 P. Riva, M. Venturin, P. Guarnieri, F. Orzan, F. Natacci, C. Gervasini, P. Colapietro, A. Bentivegna, R. Stabile, R. Tenconi, M. Upadhyaya, C. Hernandez, L. Larizza
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region
2002 C. Gervasini, A. Bentivegna, M. Venturin, L. Corrado, L. Larizza, P. Riva
Tandem duplication of the NF1 gene detected by high resolution FISH in 17q11.2 region
2002 P. Riva, C. Gervasini, A. Bentivegna, M. Venturin, L. Corrado, L. Larizza
High resolution FISH analysis of NF1 REP and non-REP microdeletions evidences nonhomologous end joining mediated rearrangements
2003 P. Riva, M. Venturin, C. Gervasini, F. Orzan, A. Bentivegna, L. Corrado, P. Colapietro, R. Tenconi, M. Upadhyaya, L. Larizza
High resolution FISH analysis of NF1 REP and non-REP microdeletions evidences nonhomologous end joining mediated rearrangements
2003 P. Riva, M. Venturin, C. Gervasini, F. Orzan, A. Bentivegna, L. Corrado, P. Colapietro, A. Friso, R. Tenconi, M. Upadhyaya, L. Larizza
Genomic organization study of NF1 duplicon by high resolution FISH
2003 A. Bentivegna, C. Gervasini, F. Orzan, M. Venturin, L. Corrado, L. Larizza, P. Riva
Search of candidate genes for cardiovascular malformation in NF1 microdeletion syndrome
2004 A. Bentivegna, M. Venturin, S. Moncini, L. Larizza, P. Riva
Mental retardation and cardiovascular malformations are significantly present in NF1-microdeleted patients and point to candidate genes in 17q11.2
2004 M. Venturin, P. Guarnieri, F. Natacci, M. Stabile, R. Tenconi, M. Clementi, C. Hernandez, P. Thompson, M. Upadhyaya, L. Larizza, P. Riva
Evidence for nonhomologous end joining and non allelic homologous recombination in atypical NF1 microdeletions
2004 M. Venturin , C. Gervasini, F. Orzan, A. Bentivegna, L. Corrado, P. Colapietro , A. Friso, R. Tenconi, M. Upadhyaya, L. Larizza, P. Riva
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene
2005 C. Gervasini, M. Venturin, F. Orzan, A. Friso, M. Clementi, R. Tenconi, L. Larizza, P. Riva
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval
2005 M. Venturin, A. Bentivegna, R. Moroni, L. Larizza, P. Riva
Characterization of breakpoint boundaries in 19 Neurofibromatosis type 1 microdeletions
2005 C. Gervasini, M. Venturin, F. Orzan, R. Tenconi, M. Upadhyaya, P. Riva, L. Larizza
Functional study of transcription cis-regulatory elements predicted in the CDK5R1 3’UTR
2006 S. Moncini, M. Venturin, A. Bevilacqua, A. Nicolin, P. Riva
Characterization 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
2006 G. Portera, M. Venturin, A. Patrizi, E. Martinoli, P. Riva, L. Dalprà
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with nonsyndromic mental retardation
2006 M. Venturin, S. Moncini, V. Villa, S. Russo, M.T. Bonati, L. Larizza, P.V. Riva
Identification of a chromosome 21 tandem duplication in a newborn
2007 E. Martinoli, M. Volontè, M. Venturin, G.V. Zuccotti, L. Pogliani, L. Dalprà, P. Riva
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