ATHANASAKIS, EMMANOUIL
A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection
2010-01-01 Pontillo, Alessandra; Brandão, Lucas A; Guimarães, Rafael L; Segat, Ludovica; Athanasakis, Emmanouil; Crovella, Sergio
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family.
2012-01-01 Faletra, F; D'Adamo, ADAMO PIO; Pensiero, S; Athanasakis, Emmanouil; Catalano, D; Bruno, I; Gasparini, Paolo
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family
2010-01-01 F., Faletra; Pirastu, Nicola; Athanasakis, Emmanouil; A., Somaschini; G., Pianigiani; Gasparini, Paolo
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients
2011-01-01 Crovella, Sergio; Segat, Ludovica; Amato, Annalisa; Athanasakis, Emmanouil; Bezzerri, Valentino; Braggion, Cesare; Casciaro, Rosaria; Castaldo, Giuseppe; Colombo, Carla; Covone, Angela Elvira; De Rose, Virginia; Gagliardini, Rolando; Lanzara, Carmen; Minicucci, Laura; Morgutti, Marcello; Nicolis, Elena; Pardo, Francesca; Quattrucci, Serena; Raia, Valeria; Ravazzolo, Roberto; Seia, Manuela; Stanzial, Valentino; Termini, Lisa; Zazzeron, Laura; Cabrini, Giulio; Gasparini, Paolo
A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples.
2017-01-01 Aloisio, M; Bortot, B; Gandin, Ilaria; Severini, GIOVANNI MARIA; Athanasakis, Emmanouil
Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration
2016-01-01 Ura, Blendi; Scrimin, Federica; Arrigoni, Giorgio; Athanasakis, Emmanouil; Aloisio, Michelangelo; Monasta, Lorenzo; Ricci, Giuseppe
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA
2013-01-01 Vozzi, D.; Licastro, D.; Martelossi, S.; Athanasakis, E.; Gasparini, P.; Fabretto, A.
Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy.
2010-01-01 Segat, Ludovica; M., Morgutti; Athanasakis, Emmanouil; C., Trevisiol; A., Amaddeo; F., Poli; Crovella, Sergio
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.
2011-01-01 R., Sorice; S., Bione; S., Sansanelli; S., Ulivi; Athanasakis, Emmanouil; C., Lanzara; T., Nutile; C., Sala; C., Camaschella; D'Adamo, ADAMO PIO; Gasparini, Paolo; M., Ciullo; D., Toniolo
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene
2013-01-01 Flavio, Faletra; D'Adamo, ADAMO PIO; Irene, Bruno; Athanasakis, Emmanouil; Saskia, Biskup; Laura, Esposito; Gasparini, Paolo
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations
2013-01-01 Faletra, F; Snider, K; Shyng, Sl; Bruno, I; Athanasakis, Emmanouil; Gasparini, Paolo; Dionisi Vici, C; Ventura, Alessandro; Zhou, Q; Stanley, Ca; Burlina, A.
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
2013-01-01 Migliore, CHIARA MARIA; Athanasakis, Emmanouil; Dahoun, S; Wonkam, A; Lees, M; Calabrese, O; Connell, F; Lynch, Sa; Izzi, C; Pompilii, E; Thakur, S; van Maarle, M; Wilson, Lc; Meroni, Germana
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
2013-01-01 Faletra, F; Athanasakis, Emmanouil; Morgan, Anna; Biarnés, X; Fornasier, F; Parini, R; Furlan, F; Boiani, A; Maiorana, A; Dionisi Vici, C; Giordano, L; Burlina, A; Ventura, Alessandro; Gasparini, Paolo
Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy
2020-01-01 Celsi, Fulvio; Zupin, Luisa; Athanasakis, Emmanouil; Orzan, Eva; Grasso, Domenico Leonardo; Crovella, Sergio
Could the MED13 mutations manifest as a Kabuki-like syndrome?
2021-01-01 De Nardi, L.; Faletra, F.; D'Adamo, A. P.; Bianco, A. M. R.; Athanasakis, E.; Bruno, I.; Barbi, E.
Developmental dyslexia and its complex genetic puzzle
2015-01-01 Athanasakis, Emmanouil; Faletra, Flavio; Licastro, Danilo; Gerbino, Walter; Lonciari, Isabella; Faletra, Francesca
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls
2014-01-01 De Pieri, Carlo; Vuch, Josef; Athanasakis, Emmanouil; Severini, GIOVANNI MARIA; Crovella, Sergio; Bianco, ANNA MONICA ROSARIA; Tommasini, Alberto
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation
2021-01-01 Girardelli, Martina; Valencic, Erica; Moressa, Valentina; Margagliotta, Roberta; Tesser, Alessandra; Pastore, Serena; Spadola, Ottavia; Athanasakis, Emmanouil; Severini, Giovanni Maria; Taddio, Andrea; Tommasini, Alberto
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study
2015-01-01 De Pieri, Carlo; Vuch, Josef; DE MARTINO, Eleonora; Bianco, ANNA MONICA ROSARIA; Ronfani, Luca; Athanasakis, Emmanouil; Bortot, Barbara; Crovella, Sergio; Taddio, Andrea; Severini, Giovanni M; Tommasini, Alberto
Genetics of Food Preferences: A First View from Silk Road Populations
2012-01-01 Pirastu, Nicola; Robino, Antonietta; Lanzara, Carmela; Athanasakis, Emmanouil; Esposito, L.; Tepper, B. J.; Gasparini, Paolo