Athanasakis E - Search Results

1

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.

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. Sorice R, et al. Among authors: athanasakis e. Eur J Hum Genet. 2011 May;19(5):593-6. doi: 10.1038/ejhg.2010.240. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248747 Free PMC article.

2

Genetics of food preferences: a first view from silk road populations.

Pirastu N, Robino A, Lanzara C, Athanasakis E, Esposito L, Tepper BJ, Gasparini P. Pirastu N, et al. Among authors: athanasakis e. J Food Sci. 2012 Dec;77(12):S413-8. doi: 10.1111/j.1750-3841.2012.02852.x. Epub 2012 Aug 13. J Food Sci. 2012. PMID: 22888812

3

Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.

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. Bezzerri V, et al. Among authors: athanasakis e. J Immunol. 2011 Apr 15;186(8):4946-58. doi: 10.4049/jimmunol.1003535. Epub 2011 Mar 16. J Immunol. 2011. PMID: 21411730 Free PMC article.

4

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. Faletra F, et al. Among authors: athanasakis e. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):115-7. doi: 10.3109/13816810.2012.707273. Epub 2012 Jul 30. Ophthalmic Genet. 2013. PMID: 22846113

5

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Athanasakis E, et al. Am J Med Genet A. 2014 Jan;164A(1):170-6. doi: 10.1002/ajmg.a.36274. Epub 2013 Dec 4. Am J Med Genet A. 2014. PMID: 24307393

6

Molecular epidemiology of Usher syndrome in Italy.

Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P. Vozzi D, et al. Among authors: athanasakis e. Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22. Mol Vis. 2011. PMID: 21738395 Free PMC article.

7

Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.

Di Stazio M, Foschi N, Athanasakis E, Gasparini P, d'Adamo AP. Di Stazio M, et al. Among authors: athanasakis e. PLoS One. 2021 Mar 5;16(3):e0247603. doi: 10.1371/journal.pone.0247603. eCollection 2021. PLoS One. 2021. PMID: 33667229 Free PMC article.

8

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AE, 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. Crovella S, et al. Among authors: athanasakis e. Clin Chem Lab Med. 2011 Jan;49(1):49-54. doi: 10.1515/CCLM.2011.023. Epub 2010 Nov 16. Clin Chem Lab Med. 2011. PMID: 21077791

9

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F. Athanasakis E, et al. Mol Syndromol. 2012 Jun;3(1):21-24. doi: 10.1159/000337928. Epub 2012 Apr 11. Mol Syndromol. 2012. PMID: 22855651 Free PMC article.

10

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Faletra F, et al. Among authors: athanasakis e. Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22. Am J Med Genet A. 2014. PMID: 24273071

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