Sfoglia per Autore
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
Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.
2010-01-01 Segat, L.; Brandão, L. A. C.; Guimarães, R. L.; Pontillo, A.; Athanasakis, Emmanouil; de Oliveira, R. M.; Arraes, L. C.; de Lima Filho, J. L.; Crovella, Sergio
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
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
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
2011-01-01 Faletra, Flavio; Athanasakis, Emmanouil; Minen, Federico; Fornasier, Federico; Marchetti, Federico; 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
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
Molecular epidemiology of Usher syndrome in Italy
2011-01-01 Vozzi, Diego; Aaspõllu, Anu; Athanasakis, Emmanouil; Berto, Anna; Fabretto, Antonella; Licastro, Danilo; Külm, Maigi; Testa, Francesco; Trevisi, Patrizia; Vahter, Marju; Ziviello, Carmela; Martini, Alessandro; Simonelli, Francesca; Banfi, Sandro; Gasparini, Paolo
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.
2011-01-01 V., Bezzerri; D'Adamo, ADAMO PIO; A., Rimessi; C., Lanzara; Crovella, Sergio; E., Nicolis; A., Tamanini; Athanasakis, Emmanouil; M., Tebon; G., Bisoffi; M. L., Drumm; M. R., Knowles; P., Pinton; Gasparini, Paolo; G., Berton; G., Cabrini
High-throughput Genotyping Robot-assisted Method for Mutation Detection in Patients With Hypertrophic Cardiomyopathy.
2011-01-01 Bortot, B; Athanasakis, Emmanouil; Brun, F; Rizzotti, D; Mestroni, L; Sinagra, Gianfranco; Severini, G. M.
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.
2012-01-01 Athanasakis, Emmanouil; Fabretto, A; Faletra, F; Mocenigo, M; Morgan, Anna; Gasparini, Paolo
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures
2012-01-01 Licastro, Danilo; Mutarelli, Margherita; Peluso, Ivana; Neveling, Kornelia; Wieskamp, Nienke; Rispoli, Rossella; Vozzi, Diego; Athanasakis, Emmanouil; D'Eustacchio, Angela; Pizzo, Mariateresa; D'Amico, Francesca; Ziviello, Carmela; Simonelli, Francesca; Fabretto, Antonella; Scheffer, Hans; Gasparini, Paolo; Banfi, Sandro; Nigro, Vincenzo
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
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
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome
2012-01-01 Athanasakis, E.; Biarnés, X.; Bonati, M. T.; Gasparini, P.; Faletra, F.
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.
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
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
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.
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
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