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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: bianchi m. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Typing TREX1 gene in patients with systemic lupus erythematosus.
Fredi M, Bianchi M, Andreoli L, Greco G, Olivieri I, Orcesi S, Fazzi E, Cereda C, Tincani A. Fredi M, et al. Among authors: bianchi m. Reumatismo. 2015 Jun 30;67(1):1-7. doi: 10.4081/reumatismo.2015.782. Reumatismo. 2015. PMID: 26150267 Free article.
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
Galli J, Gavazzi F, De Simone M, Giliani S, Garau J, Valente M, Vairo D, Cattalini M, Mortilla M, Andreoli L, Badolato R, Bianchi M, Carabellese N, Cereda C, Ferraro R, Facchetti F, Fredi M, Gualdi G, Lorenzi L, Meini A, Orcesi S, Tincani A, Zanola A, Rice G, Fazzi E; AGS study group. Galli J, et al. Among authors: bianchi m. Medicine (Baltimore). 2018 Dec;97(52):e13893. doi: 10.1097/MD.0000000000013893. Medicine (Baltimore). 2018. PMID: 30593198 Free PMC article.
Legius Syndrome: two novel mutations in the SPRED1 gene.
Bianchi M, Saletti V, Micheli R, Esposito S, Molinaro A, Gagliardi S, Orcesi S, Cereda C. Bianchi M, et al. Hum Genome Var. 2015 Dec 3;2:15051. doi: 10.1038/hgv.2015.51. eCollection 2015. Hum Genome Var. 2015. PMID: 27081556 Free PMC article.
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
De Giorgis V, Teutonico F, Cereda C, Balottin U, Bianchi M, Giordano L, Olivotto S, Ragona F, Tagliabue A, Zorzi G, Nardocci N, Veggiotti P. De Giorgis V, et al. Among authors: bianchi m. Seizure. 2015 Jan;24:28-32. doi: 10.1016/j.seizure.2014.11.009. Epub 2014 Nov 26. Seizure. 2015. PMID: 25564316 Free article.
Regulation of FMO and PON detoxication systems in ALS human tissues.
Gagliardi S, Abel K, Bianchi M, Milani P, Bernuzzi S, Corato M, Ceroni M, Cashman JR, Cereda C. Gagliardi S, et al. Among authors: bianchi m. Neurotox Res. 2013 May;23(4):370-7. doi: 10.1007/s12640-012-9356-1. Epub 2012 Oct 17. Neurotox Res. 2013. PMID: 23073612
2,534 results