Gervasini C - Search Results

1

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, Esteve Martínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L. Colombo EA, et al. Among authors: gervasini c. Int J Mol Sci. 2018 Apr 6;19(4):1103. doi: 10.3390/ijms19041103. Int J Mol Sci. 2018. PMID: 29642415 Free PMC article.

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

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

4

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

5

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

6

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L. Lalatta F, et al. Among authors: gervasini c. Genet Med. 2007 Mar;9(3):188-94. doi: 10.1097/gim.0b013e31803183dd. Genet Med. 2007. PMID: 17413424

7

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.

8

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

9

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.

10

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Castronovo P, Gervasini C, Cereda A, Masciadri M, Milani D, Russo S, Selicorni A, Larizza L. Castronovo P, et al. Among authors: gervasini c. Chromosome Res. 2009;17(6):763-71. doi: 10.1007/s10577-009-9066-6. Epub 2009 Aug 19. Chromosome Res. 2009. PMID: 19690971

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