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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: fabretto a. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 Free PMC article.
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
D'Adamo P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Ronfani L, Montico M, Morgutti M, Guastalla P, Gasparini P. D'Adamo P, et al. Among authors: fabretto a. Eur J Hum Genet. 2009 Mar;17(3):284-6. doi: 10.1038/ejhg.2008.225. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050724 Free PMC article. No abstract available.
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Rocca MS, et al. Among authors: fabretto a. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.
Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Athanasakis E, et al. Among authors: fabretto a. Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855652 Free PMC article.
26 results