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
Genomic evidence versus characterization of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in “balanced” chromosomal rearrangements. Reply
2002 P. Riva, C. Gervasini, 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
NF1 exon 7 skipping by disruption of exonic splice enhancers (ESEs) in neurofibromatosis 1
2003 P. Colapietro, C. Gervasini, F. Natacci, L. Rossi, P. Riva, 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
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
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
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
2006 A. MUSIO, A. SELICORNI, M.L. FOCARELLI, C.C.G. GERVASINI, D. MILANI, S. RUSSO, P. VEZZONI, L. LARIZZA
Rubinstein-Taybi syndrome : spectrum of CREBBP mutations in Italian patients.
2006 A. Bentivegna, D. Milani, C. Gervasini, P. Castronovo, F. Mottadelli, S. Manzini, P. Colapietro, L. Giordano, F. Atzeri, M.T. Divizia, M.L. Giovannucci Uzielli, G.i. Neri, M.F. Bedeschi, F. Faravelli, A. Selicorni, L. Larizza
High frequency of mosaic CREBBP deletions in RSTS patients and mapping of somatic and germline breakpoints
2007 C. Gervasini, P. Castronovo, A. Bentivegna, F. Mottadelli, E. Lucci Cordisco, A. Pinto, M.L. Uzielli, F. Faravelli, A. Pessagno, A. Selicorni, R. Tenconi, G. Neri, L. Larizza
Chromosome 13q14.2-q14.3 and 15q26.2-qter deletions detected by array-CGH in two patients with Cornelia de Lange syndrome
2007 G. Roversi, C. Gervasini, P. Castronovo, R. Pfundt, S. Russo, D. Milani, A. Selicorni, A. Musio, E.F. Schoenmakers, L. Larizza
Functional analysis of splicing mutations in exon 7 of NF1 gene
2007 I. Bottillo, A. De Luca, A. Schirinzi, V. Guida, I. Torrente, S. Calmieri, C. Gervasini, L. Larizza, A. Pizzuti, B. Dallapiccola
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