Gervasini C - Search Results

1

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Gervasini C, Parenti I, Picinelli C, Azzollini J, Masciadri M, Cereda A, Selicorni A, Russo S, Finelli P, Larizza L. Gervasini C, et al. Eur J Med Genet. 2013 Mar;56(3):138-43. doi: 10.1016/j.ejmg.2012.12.009. Epub 2013 Jan 8. Eur J Med Genet. 2013. PMID: 23313159

2

FISH with locus-specific probes on stretched chromosomes: a useful tool for genome organization studies.

Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P. Bentivegna A, et al. Among authors: gervasini c. Chromosome Res. 2001;9(2):167-70. doi: 10.1023/a:1009287104812. Chromosome Res. 2001. PMID: 11321371 No abstract available.

3

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: gervasini c. Hum Genet. 2001 Jul;109(1):48-54. doi: 10.1007/s004390100536. Hum Genet. 2001. PMID: 11479735

4

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. Hum Genet. 2002 Apr;110(4):314-21. doi: 10.1007/s00439-002-0704-8. Epub 2002 Mar 20. Hum Genet. 2002. PMID: 11941479

5

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L. Colapietro P, et al. Among authors: gervasini c. Hum Genet. 2003 Nov;113(6):551-4. doi: 10.1007/s00439-003-1009-2. Epub 2003 Sep 6. Hum Genet. 2003. PMID: 13680360

6

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: gervasini c. Hum Genet. 2004 Jun;115(1):69-80. doi: 10.1007/s00439-004-1101-2. Epub 2004 Apr 21. Hum Genet. 2004. PMID: 15103551

7

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

Gervasini C, Venturin M, Orzan F, Friso A, Clementi M, Tenconi R, Larizza L, Riva P. Gervasini C, et al. Genomics. 2005 Feb;85(2):273-9. doi: 10.1016/j.ygeno.2004.10.014. Genomics. 2005. PMID: 15676286

8

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. Musio A, et al. Among authors: gervasini c. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071

9

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Bentivegna A, et al. Among authors: gervasini c. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.

10

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: gervasini c. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

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