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101 results

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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Among authors: forzano f. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: forzano f. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
Craniofacial characteristics of fragile X syndrome in mouse and man.
Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P. Heulens I, et al. Among authors: forzano f. Eur J Hum Genet. 2013 Aug;21(8):816-23. doi: 10.1038/ejhg.2012.265. Epub 2012 Dec 5. Eur J Hum Genet. 2013. PMID: 23211703 Free PMC article.
Growth hormone, gender and face shape in Prader-Willi syndrome.
de Souza MA, McAllister C, Suttie M, Perrotta C, Mattina T, Faravelli F, Forzano F, Holland A, Hammond P. de Souza MA, et al. Among authors: forzano f. Am J Med Genet A. 2013 Oct;161A(10):2453-63. doi: 10.1002/ajmg.a.36100. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918156
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Vetro A, et al. Among authors: forzano f. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351776 Free PMC article.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: forzano f. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Guida V, Calzari L, Fadda MT, Piceci-Sparascio F, Digilio MC, Bernardini L, Brancati F, Mattina T, Melis D, Forzano F, Briuglia S, Mazza T, Bianca S, Valente EM, Salehi LB, Prontera P, Pagnoni M, Tenconi R, Dallapiccola B, Iannetti G, Corsaro L, De Luca A, Gentilini D. Guida V, et al. Among authors: forzano f. Int J Mol Sci. 2021 Jan 26;22(3):1190. doi: 10.3390/ijms22031190. Int J Mol Sci. 2021. PMID: 33530447 Free PMC article.
101 results