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Studi pubblicati nel 2021

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation. Pascolini G, Gaudioso F, Passarelli C, Novelli A, Di Giosaffatte N, Majore S, Grammatico P. J Mol Neurosci. 2021 Jul 5.

Use of DPB1 T-cell epitope algorithm among italian transplant centers: A survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti. Crocchiolo R, Mele L, Testi M, Scollo Chiara M, Murgia B, Rossi A, Vecchiato C, Grammatico P, Mininni D, Longhi E, Manfroi S, Giuliodori S, Castellani L, Carella G, Lai S, Azzaro Maria P, Mazzi B, Perotti L, Penta R, Lombardo C, Tognellini R, Andreani M, Albergoni Maria P, Nesci S, Cappuzzo V, Chiusolo P, Garino E, Cappucci G, Ceschini N, Bevilacqua E, Guizzardi E, Tagliaferri Cinzia M, Piazza A, Carcassi C, Miotti V.HLA. 2021 Aug.

Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X. Pontecorvi P, Megiorni F, Camero S, Ceccarelli S, Bernardini L, Capalbo A, Anastasiadou E, Gerini G, Messina E, Perniola G, Benedetti Panici P, Grammatico P, Pizzuti A, Marchese C.Biology (Basel). 2021 May 21.

True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature. Nicolazzo C, Barault L, Caponnetto S, De Renzi G, Belardinilli F, Bottillo I, Bargiacchi S, Macagno M, Grammatico P, Giannini G, Cortesi E, Di Nicolantonio F, Gazzaniga P.Cancer Lett. 2021 Jun 1.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW.Genet Med. 2021 Jun.

Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome. Pontecorvi P, Bernardini L, Capalbo A, Ceccarelli S, Megiorni F, Vescarelli E, Bottillo I, Preziosi N, Fabbretti M, Perniola G, Benedetti Panici P, Pizzuti A, Grammatico P, Marchese C. Sci Rep. 2021 Jan 11

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Majore S, Agolini E, Micale L, Pascolini G, Zuppi P, Cocciadiferro D, Morlino S, Mattiuzzo M, Valiante M, Castori M, Novelli A, Grammatico P. Clin Genet. 2021 Apr.