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Mostrati risultati da 1 a 20 di 147
Titolo Data di pubblicazione Autori Tipo File Abstract
Mapping of genes and EST to 17q11.2 to a YAC contig centered on the NF1 gene 2000 P. RivaM. VenturinC. GervasiniL. Larizza + Article (author) -
FISH with locus-specific probes on stretched chromosomes : a useful tool for genome organization studies 2001 M. VenturinC. GervasiniL. LarizzaP. Riva + Article (author) -
Identification of duplicated genes in 17q11.2 by using FISH on stretched chromosomes and DNA fibers 2001 M. VenturinC. GervasiniL. LarizzaP. Riva + Article (author) -
Erratum: Fish with locus-specific probes on stretched chromosomes: A useful tool for genome organization studies (Chromosome reseach (2001) 9 (167-170)) 2001 Bentivegna A.Venturin M.Gervasini C.Corrado L.Larizza L.Riva P. Article (author) -
Tandem duplication of the NF1 gene detected by high resolution FISH in 17q11.2 region 2002 P. RivaC. GervasiniM. VenturinL. Larizza + Article (author) -
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region 2002 C. GervasiniM. VenturinL. LarizzaP. Riva + Article (author) -
Genotype-phenotype correlation in patients with NF1 microdeletion syndrome : identification of candidate genes for mental retardation 2002 P. RivaM. VenturinF. OrzanC. GervasiniP. ColapietroL. Larizza + Article (author) -
Genomic evidence versus characterization of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in “balanced” chromosomal rearrangements. Reply 2002 P. RivaC. GervasiniL. Larizza Article (author) -
Genomic organization study of NF1 duplicon by high resolution FISH 2003 C. GervasiniM. VenturinL. LarizzaP. Riva + Article (author) -
NF1 exon 7 skipping by disruption of exonic splice enhancers (ESEs) in neurofibromatosis 1 2003 P. ColapietroC. GervasiniP. RivaL. Larizza + Article (author) -
High resolution FISH analysis of NF1 REP and non-REP microdeletions evidences nonhomologous end joining mediated rearrangements 2003 P. RivaM. VenturinC. GervasiniP. ColapietroL. Larizza + Article (author) -
High resolution FISH analysis of NF1 REP and non-REP microdeletions evidences nonhomologous end joining mediated rearrangements 2003 P. RivaM. VenturinC. GervasiniP. ColapietroL. Larizza + Article (author) -
Evidence for nonhomologous end joining and non allelic homologous recombination in atypical NF1 microdeletions 2004 M. VenturinC. GervasiniF. OrzanP. ColapietroL. LarizzaP. Riva + Article (author) -
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene 2005 C. GervasiniM. VenturinF. OrzanL. LarizzaP. Riva + Article (author) -
Characterization of breakpoint boundaries in 19 Neurofibromatosis type 1 microdeletions 2005 C. GervasiniM.VenturinP.RivaL. Larizza + Article (author) -
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations 2006 C.C.G. GERVASINIL. LARIZZA + Article (author) -
Rubinstein-Taybi syndrome : spectrum of CREBBP mutations in Italian patients. 2006 C. GervasiniP. CastronovoMOTTADELLI, FEDERICAS. ManziniP. ColapietroL. Larizza + Article (author) -
High frequency of mosaic CREBBP deletions in RSTS patients and mapping of somatic and germline breakpoints 2007 C. GervasiniP. CastronovoF. MottadelliL. Larizza + Article (author) -
Chromosome 13q14.2-q14.3 and 15q26.2-qter deletions detected by array-CGH in two patients with Cornelia de Lange syndrome 2007 G. RoversiC. GervasiniP. CastronovoL. Larizza + Article (author) -
Functional analysis of splicing mutations in exon 7 of NF1 gene 2007 C. GervasiniL. Larizza + Article (author) -
Mostrati risultati da 1 a 20 di 147
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