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Studi pubblicati nel 2020

Bottillo I, Valiante M, Menale L, Paiardini A, Papi L, Janson G, Sestini R, Iorio A, De Simone P, Frascione P, Grammatico P. A novel CDKN2A in-frame deletion associated with pacreatic cancer-melanoma syndrome. Dermatol Online J. 2020 Aug 15.

Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. Am J Hum Genet. 2020 Aug 3.

Pascolini G, Agolini E, Fleischer N, Pierantoni R, Loddo S, Novelli A, Bernardini L, Majore S, Grammatico P. Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Neurol Sci. 2020 Jun 11.

Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P. A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. Am J Med Genet A. 2020 Jul.

Malapelle U, Pepe F, Pisapia P, Sgariglia R, Nacchio M, De Luca C, Lacalamita R, Tommasi S, Pinto R, Palomba G, Palmieri G, Vacirca D, Barberis M, Bottillo I, Grammatico P, Grillo LR, Costa V, Smeraglio R, Bruzzese D, Troncone G. Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel. Front Oncol. 2020 Mar 11

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clin Genet. 2020 Mar. 

Pascolini G, Valiante M. Bottillo I, Laino L, Fleisher N. Ferraris A, Grammatico P. Striking phenotypic overlap between Nocolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. Eur. J. Med. Genet. 2020 Mar

Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M. Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy. Biochim Biophys Acta Mol Basis Dis. 2020 Feb 24.

Pascolini G, Agolini E, Novelli A, Majore S, Grammatico P. The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype. Clin Genet. 2020 Jan 29.

Lipari M, Wypasek E, Karpiński M, Tomkiewicz-Pajak L, Laino L, Binni F, Giannarelli D, Rubiś P, Petkow-Dimitrow P, Undas A, Grammatico P, Bottillo I. Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. Pol Arch Intern Med. 2020 Jan 9.