Sfoglia per Autore
Microarray and large-scale in silico-based identification of genes functionally related to Haptoglobin and/or Hemopexin.
2006-01-01 Fagoonee, S; DI CUNTO, F; Vozzi, Diego; Volinia, S; Pellegrino, M; Gasparini, Paolo; Silengo, L; Atruda, F; Tolosano, E.
Organo-silane coated substrates for DNA purification
2011-01-01 Pasquardini, L.; Lunelli, L.; Potrich, C.; Marocchi, L.; Fiorilli, S.; Vozzi, D.; Vanzetti, L.; Gasparini, P.; Anderle, M.; Pederzolli, C.
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
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 P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
2013-01-01 Flavio, Faletra; Girotto, Giorgia; D'Adamo, ADAMO PIO; Vozzi, Diego; Morgan, Anna; Gasparini, Paolo
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.
Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
2013-01-01 Girotto, Giorgia; K., Abdulhadi; A., Buniello; Vozzi, Diego; Licastro, Danilo; A., D’Eustacchio; Vuckovic, Dragana; M., Khalifa Alkowari; K. P., Steel; R., Badii; Gasparini, Paolo
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients
2014-01-01 Vozzi, Diego; Morgan, Anna; Vuckovic, Dragana; A., D'Eustacchio; K., Abdulhadi; E., Rubinato; R., Badii; Gasparini, Paolo; Girotto, Giorgia
Mevalonate kinase deficiency and IBD: shared genetic background
2014-01-01 Bianco, A. M.; Girardelli, Martina; Vozzi, Diego; Crovella, Sergio; Kleiner, G.; Marcuzzi, Annalisa
Genetic landscape of populations along the Silk Road: admixture and migration patterns
2014-01-01 Mezzavilla, Massimo; Vozzi, Diego; Pirastu, Nicola; Girotto, Giorgia; D'Adamo, ADAMO PIO; Gasparini, Paolo; Colonna, Vincenza
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
2014-01-01 Gandin, Ilaria; Faletra, Flavio; Faletra, F; Carella, M; Pecile, Vanna; Ferrero, Gb; Biamino, E; Palumbo, P; Palumbo, O; Bosco, P; Romano, C; Belcaro, Chiara; Vozzi, Diego; D'Adamo, ADAMO PIO
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection
2014-01-01 Athanasakis, Emmanouil; Danilo, Licastro; Flavio, Faletra; Antonella, Fabretto; Savina, Dipresa; Vozzi, Diego; Morgan, Anna; D'Adamo, ADAMO PIO; Vanna, Pecile; Xevi, Biarnés; Gasparini, Paolo
Consanguinity and Hereditary Hearing Loss in Qatar
2014-01-01 Girotto, Giorgia; Mezzavilla, Massimo; Khalid, Abdulhadi; Vuckovic, Dragana; Vozzi, Diego; Moza Khalifa, Alkowari; Gasparini, Paolo; Ramin, Badii
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
2015-01-01 Lougaris, Vassilios; Faletra, Flavio; Lanzi, Gaetana; Vozzi, Diego; Marcuzzi, Annalisa; Valencic, Erica; Piscianz, Elisa; Bianco, ANNA MONICA ROSARIA; Girardelli, Martina; Baronio, Manuela; Loganes, Claudia; Fasth, Anders; Salvini, Filippo; Trizzino, Antonino; Moratto, Daniele; Facchetti, Fabio; Giliani, Silvia; Plebani, Alessandro; Tommasini, Alberto
Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis
2015-01-01 Lenarduzzi, Stefania; Vozzi, Diego; Morgan, Anna; Rubinato, Elisa; D'Eustacchio, A.; Osland, TERESA MARIA; Rossi, C.; Graziano, C.; Castorina, P.; Ambrosetti, U.; Morgutti, Marcello; Girotto, Giorgia
Rare coding variants and X-linked loci associated with age at menarche
2015-01-01 Lunetta, Kathryn L.; Day, Felix R.; Sulem, Patrick; Ruth, Katherine S.; Tung, Joyce Y.; Hinds, David A.; Esko, Toñu; Elks, Cathy E.; Altmaier, Elisabeth; He, Chunyan; Huffman, Jennifer E.; Mihailov, Evelin; Porcu, Eleonora; Robino, Antonietta; Rose, Lynda M.; Schick, Ursula M.; Stolk, Lisette; Teumer, Alexander; Thompson, Deborah J.; Traglia, Michela; Wang, Carol A.; Yerges Armstrong, Laura M.; Antoniou, Antonis C.; Barbieri, CATERINA MARIA; Coviello, Andrea D.; Cucca, Francesco; Demerath, Ellen W.; Dunning, Alison M.; Gandin, Ilaria; Grove, Megan L.; Gudbjartsson, Daniel F.; Hocking, Lynne J.; Hofman, Albert; Huang, Jinyan; Jackson, Rebecca D.; Karasik, David; Kriebel, Jennifer; Lange, Ethan M.; Lange, Leslie A.; Langenberg, Claudia; Li, Xin; Luan, Jian'An; Mägi, Reedik; Morrison, Alanna C.; Padmanabhan, Sandosh; Pirie, Ailith; Polasek, Ozren; Porteous, David; Reiner, Alex P.; Rivadeneira, Fernando; Rudan, Igor; Sala, Cinzia F.; Schlessinger, David; Scott, Robert A.; Stöckl, Doris; Visser, Jenny A.; Völker, Uwe; Vozzi, Diego; Wilson, James G.; Zygmunt, Marek; Boerwinkle, Eric; Buring, Julie E.; Crisponi, Laura; Easton, Douglas F.; Hayward, Caroline; Hu, Frank B.; Liu, Simin; Metspalu, Andres; Pennell, Craig E.; Ridker, Paul M.; Strauch, Konstantin; Streeten, Elizabeth A.; Toniolo, Daniela; Uitterlinden, André G.; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J.; Wellons, Melissa; Franceschini, Nora; Chasman, Daniel I.; Thorsteinsdottir, Unnur; Murray, Anna; Stefansson, Kari; Murabito, Joanne M.; Ong, Ken K.; Perry, John R. B.; Forouhi, Nita G.; Kerrison, Nicola D.; Sharp, Stephen J.; Sims, Matt; Barroso, Inês; Deloukas, Panos; Mccarthy, Mark I.; Arriola, Larraitz; Balkau, Beverley; Barricarte, Aurelio; Boeing, Heiner; Franks, Paul W.; Gonzalez, Carlos; Grioni, Sara; Kaaks, Rudolf; Key, Timothy J.; Navarro, Carmen; Nilsson, Peter M.; Overvad, Kim; Palli, Domenico; Panico, Salvatore; Quirós, J. Ramón; Rolandsson, Olov; Sacerdote, Carlotta; Sánchez, María José; Slimani, Nadia; Tjonneland, Anne; Tumino, Rosario; Van Der A, Daphne L.; Van Der Schouw, Yvonne T.; Riboli, Elio; Smith, Blair H.; Campbell, Archie; Deary, Ian J.; Mcintosh, Andrew M.
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability
2015-01-01 Morgan, Anna; Gandin, Ilaria; Belcaro, Chiara; Palumbo, Pietro; Palumbo, Orazio; Biamino, Elisa; DAL COL, Valentina; Laurini, Erik; Pricl, Sabrina; Bosco, Paolo; Carella, Massimo; Ferrero, Giovanni Battista; Romano, Corrado; D'Adamo, ADAMO PIO; Faletra, Flavio; Vozzi, Diego
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss
2015-01-01 Girotto, Giorgia; Scheffer, Déborah I.; Morgan, Anna; Vozzi, Diego; Rubinato, Elisa; DI STAZIO, Mariateresa; Muzzi, Enrico; Pensiero, Stefano; Giersch, Anne B.; Corey, David P.; Gasparini, Paolo
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
2015-01-01 Vuckovic, Dragana; Dawson, Sally; Scheffer, Deborah I; Rantanen, Taina; Morgan, Anna; DI STAZIO, Mariateresa; Vozzi, Diego; Nutile, Teresa; Concas, MARIA PINA; Biino, Ginevra; Nolan, Lisa; Bahl, Aileen; Loukola, Anu; Viljanen, Anne; Davis, Adrian; Ciullo, Marina; Corey, David P; Pirastu, Mario; Gasparini, Paolo; Girotto, Giorgia
Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar
2015-01-01 Mezzavilla, Massimo; Vozzi, Diego; Badii, Ramin; Khalifa Alkowari, Moza; Abdulhadi, Khalid; Girotto, Giorgia; Gasparini, Paolo
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