Export 17 results:
Autore Titolo Tipo [ Anno(Desc)]
Filtri: Autore è Athanasakis, Emmanouil  [Clear All Filters]
2010
Pontillo A, Brandão LA, Guimarães RL, Segat L, Athanasakis E, Crovella S. A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. J Acquir Immune Defic Syndr 2010;54(3):236-40.
2011
Sorice R, Bione S, Sansanelli S, Ulivi S, Athanasakis E, Lanzara C, Nutile T, Sala C, Camaschella C, d'Adamo P, Gasparini P, Ciullo M, Toniolo D. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet 2011;19(5):593-6.
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.
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.
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.
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.
2012
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.
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.
2013
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.
2014
Faletra F, d'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7.
De Pieri C, Vuch J, Athanasakis E, Severini GMaria, Crovella S, Bianco AMonica, Tommasini A. F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol 2014;32(6):993-4.
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.

Amministrazione Trasparente