Selicorni A - Search Results

1

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.

Selicorni A, Mariani M, Lettieri A, Massa V. Selicorni A, et al. Genes (Basel). 2021 Jul 15;12(7):1075. doi: 10.3390/genes12071075. Genes (Basel). 2021. PMID: 34356091 Free PMC article. Review.

2

Variability of the Brachmann-de Lange syndrome.

Selicorni A, Lalatta F, Livini E, Briscioli V, Piguzzi T, Bagozzi DC, Mastroiacovo P, Zampino G, Gaeta G, Pugliese A, et al. Selicorni A, et al. Am J Med Genet. 1993 Nov 15;47(7):977-82. doi: 10.1002/ajmg.1320470708. Am J Med Genet. 1993. PMID: 8291540

3

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: selicorni a. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071

4

The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.

Basile E, Villa L, Selicorni A, Molteni M. Basile E, et al. Among authors: selicorni a. J Intellect Disabil Res. 2007 Sep;51(Pt 9):671-81. doi: 10.1111/j.1365-2788.2007.00977.x. J Intellect Disabil Res. 2007. PMID: 17845236

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: selicorni a. Clin Genet. 2010 Dec;78(6):560-4. doi: 10.1111/j.1399-0004.2010.01408.x. Clin Genet. 2010. PMID: 20331678

6

A new report of Cornelia de Lange syndrome associated with split hand and feet.

Barboni C, Cereda A, Mariani M, Gervasini C, Ajmone P, Biondi A, Selicorni A. Barboni C, et al. Among authors: selicorni a. Am J Med Genet A. 2012 Nov;158A(11):2953-5. doi: 10.1002/ajmg.a.35623. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991273

7

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. Among authors: selicorni a. 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

8

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. Among authors: selicorni a. BMC Med Genet. 2013 Apr 3;14:41. doi: 10.1186/1471-2350-14-41. BMC Med Genet. 2013. PMID: 23551878 Free PMC article.

9

Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures.

Mariani M, Bettini LR, Cereda A, Maitz S, Gervasini C, Russo S, Masciadri M, Biondi A, Larizza L, Selicorni A. Mariani M, et al. Among authors: selicorni a. Am J Med Genet A. 2013 Jul;161A(7):1825-6. doi: 10.1002/ajmg.a.35988. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696053 No abstract available.

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. Among authors: selicorni a. 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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