Gervasini C - Search Results

1

DNA Methylation in the Diagnosis of Monogenic Diseases.

Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: gervasini c. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.

2

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.

3

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

4

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, Barbano G, Divizia MT, Fedele L, Novelli A, Béna F, Lalatta F, Miozzo M, Dallapiccola B. Bernardini L, et al. Among authors: gervasini c. Orphanet J Rare Dis. 2009 Nov 4;4:25. doi: 10.1186/1750-1172-4-25. Orphanet J Rare Dis. 2009. PMID: 19889212 Free PMC article.

5

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

Castronovo P, Delahaye-Duriez A, Gervasini C, Azzollini J, Minier F, Russo S, Masciadri M, Selicorni A, Verloes A, Larizza L. Castronovo P, et al. Among authors: gervasini c. Clin Genet. 2010 Dec;78(6):560-4. doi: 10.1111/j.1399-0004.2010.01408.x. Clin Genet. 2010. PMID: 20331678

6

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, De Toffol S, Frontino G, Motta F, Maitz S, Bernardini L, Dallapiccola B, Fedele L, Larizza L, Miozzo M. Gervasini C, et al. Genet Med. 2010 Oct;12(10):634-40. doi: 10.1097/GIM.0b013e3181ed6185. Genet Med. 2010. PMID: 20847698 Free article.

7

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.

Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, Haas O, Scarano G, Di Rocco M, Finelli P, Tenconi R, Selicorni A, Larizza L. Russo S, et al. Among authors: gervasini c. Eur J Hum Genet. 2012 Jul;20(7):734-41. doi: 10.1038/ejhg.2012.7. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353942 Free PMC article.

8

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

9

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.

Gervasini C, Picinelli C, Azzollini J, Rusconi D, Masciadri M, Cereda A, Marzocchi C, Zampino G, Selicorni A, Tenconi R, Russo S, Larizza L, Finelli P. Gervasini C, et al. BMC Med Genet. 2013 Apr 3;14:41. doi: 10.1186/1471-2350-14-41. BMC Med Genet. 2013. PMID: 23551878 Free PMC article.

10

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Melis D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L. Gervasini C, et al. Am J Med Genet A. 2013 Nov;161A(11):2909-19. doi: 10.1002/ajmg.a.36252. Epub 2013 Oct 2. Am J Med Genet A. 2013. PMID: 24124034

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