Gervasini C - Search Results

1

Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib.

Gupta D, Chandrashekar L, Larizza L, Colombo EA, Fontana L, Gervasini C, Thappa DM, Rajappa M, Rajendiran KS, Sreenath GS, Kate V. Gupta D, et al. Among authors: gervasini c. Int J Dermatol. 2017 Feb;56(2):195-201. doi: 10.1111/ijd.13516. Int J Dermatol. 2017. PMID: 28074523

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

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L. Gervasini C, et al. Genomics. 2007 Nov;90(5):567-73. doi: 10.1016/j.ygeno.2007.07.012. Epub 2007 Sep 12. Genomics. 2007. PMID: 17855048 Free article.

9

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Gervasini C, Pfundt R, Castronovo P, Russo S, Roversi G, Masciadri M, Milani D, Zampino G, Selicorni A, Schoenmakers EF, Larizza L. Gervasini C, et al. Clin Genet. 2008 Dec;74(6):531-8. doi: 10.1111/j.1399-0004.2008.01086.x. Epub 2008 Sep 16. Clin Genet. 2008. PMID: 18798846

10

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Larizza L, Gervasini C, Natacci F, Riva P. Larizza L, et al. Among authors: gervasini c. Curr Mol Med. 2009 Jun;9(5):634-53. doi: 10.2174/156652409788488801. Curr Mol Med. 2009. PMID: 19601812 Review.

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