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Filtri: Autore è Athanasakis, Emmanouil  [Clear All Filters]
Journal Article
Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 2011;32(4):256-8.
Franca R, Rebora P, Athanasakis E, Favretto D, Verzegnassi F, Basso G, Tommasini A, Valsecchi MGrazia, Decorti G, Rabusin M. TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype. Pharmacogenomics 2014;15(5):619-27.
Rizzardi C, Athanasakis E, Cammisuli F, Dal Monego S, DE Spelorzi YChiquinqui, Costantinides F, Giudici F, Pinamonti M, Canzonieri V, Melato M, Pascolo L. Puzzling Results from Germline Mutations Analysis in a Group of Asbestos-Exposed Patients in a High-risk Area of Northeast Italy. Anticancer Res 2017;37(6):3073-3083.
Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AElvira, De Rose V, Gagliardini R, Lanzara C, Minicucci L, Morgutti M, Nicolis E, Pardo F, Quattrucci S, Raia V, Ravazzolo R, Seia M, Stanzial V, Termini L, Zazzeron L, Cabrini G, Gasparini P. A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin Chem Lab Med 2011;49(1):49-54.
Bezzerri V, d'Adamo P, Rimessi A, Lanzara C, Crovella S, Nicolis E, Tamanini A, Athanasakis E, Tebon M, Bisoffi G, Drumm ML, Knowles MR, Pinton P, Gasparini P, Berton G, Cabrini G. Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. J Immunol 2011;186(8):4946-58.
Athanasakis E, Melloni E, Rigolin GMatteo, Agnoletto C, Voltan R, Vozzi D, Piscianz E, Segat L, dal Monego S, Cuneo A, Secchiero P, Zauli G. The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. Oncotarget 2014;5(24):12635-45.
Faletra F, d'Adamo APio, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012;7(8):e43799.
Bortot B, Athanasakis E, Brun F, Rizzotti D, Mestroni L, Sinagra G, Severini GMaria. High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy. Diagn Mol Pathol 2011;20(3):175-9.
Pirastu N, Robino A, Lanzara C, Athanasakis E, Esposito L, Tepper BJ, Gasparini P. Genetics of food preferences: a first view from silk road populations. J Food Sci 2012;77(12):S413-8.
De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A. Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study. Pediatr Rheumatol Online J 2015;13:11.

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