VOZZI, DIEGO

VOZZI, DIEGO  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

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Risultati 1 - 20 di 37 (tempo di esecuzione: 0.041 secondi).
Titolo Data di pubblicazione Autori File
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 1-gen-2013 GIROTTO, GIORGIAD'ADAMO, ADAMO PIOVOZZI, DIEGOMORGAN, ANNAGASPARINI, PAOLO +
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA 1-gen-2013 Vozzi, D.Licastro, D.Athanasakis, E.Gasparini, P.Fabretto, A. +
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 1-gen-2015 FALETRA, FLAVIOVOZZI, DiegoMARCUZZI, ANNALISAVALENCIC, ERICAPISCIANZ, ELISABIANCO, ANNA MONICA ROSARIAGIRARDELLI, MARTINALOGANES, CLAUDIATOMMASINI, ALBERTO +
Analisi mediante metodiche di sequenziamente di nuova generazione di soggetti affetti da sordità genetica, finalizzata all’individuazione di alterazioni genomiche patogenetiche, non descritte in precedenza. 18-ott-2019 VOZZI, DIEGO
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 1-gen-2018 Verzegnassi F.Valencic E.Kiren V.Giurici N.Bianco A. M.Marcuzzi A.Vozzi D.Tommasini A.Faletra F.
Consanguinity and Hereditary Hearing Loss in Qatar 1-gen-2014 GIROTTO, GIORGIAMEZZAVILLA, MASSIMOVUCKOVIC, DRAGANAVOZZI, DiegoGASPARINI, PAOLO +
Directional dominance on stature and cognition in diverse human populations 1-gen-2015 GANDIN, ILARIACONCAS, MARIA PINAVUCKOVIC, DRAGANAROBINO, ANTONIETTAVOZZI, DiegoPIRASTU, NicolaGIROTTO, GIORGIAGASPARINI, PAOLO +
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 1-gen-2014 GANDIN, ILARIAFALETRA, FLAVIOPECILE, VANNABELCARO, CHIARAVOZZI, DiegoD'ADAMO, ADAMO PIO +
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals 1-gen-2018 Concas, Maria PinaGirotto, GiorgiaVuckovic, DraganaGandin, IlariaRobino, AntoniettaUlivi, SheilaVozzi, DiegoGasparini, PaoloPirastu, Nicola +
Genetic landscape of populations along the Silk Road: admixture and migration patterns 1-gen-2014 MEZZAVILLA, MASSIMOVOZZI, DiegoPIRASTU, NicolaGIROTTO, GIORGIAD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Genetic variants linked to education predict longevity. 1-gen-2016 CONCAS, MARIA PINAGIROTTO, GIORGIAVUCKOVIC, DRAGANAGANDIN, ILARIAROBINO, ANTONIETTAULIVI, SHEILAVOZZI, DIEGOGASPARINI, PAOLOPIRASTU, Nicola +
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders 1-gen-2018 Gandin I.Vozzi D.Concas M. P.Robino A. +
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences 1-gen-2019 Concas, Maria PinaGirotto, GiorgiaVuckovic, DraganaGandin, IlariaRobino, AntoniettaVozzi, DiegoGasparini, PaoloPirastu, Nicola +
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss 1-gen-2015 VUCKOVIC, DRAGANAMORGAN, ANNADI STAZIO, MARIATERESAVOZZI, DiegoCONCAS, MARIA PINAGASPARINI, PAOLOGIROTTO, GIORGIA +
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients 1-gen-2014 VOZZI, DIEGOMORGAN, ANNAVUCKOVIC, DRAGANAGASPARINI, PAOLOGIROTTO, GIORGIA +
Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar 1-gen-2015 MEZZAVILLA, MASSIMOVOZZI, DIEGOGIROTTO, GIORGIAGASPARINI, PAOLO +
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair 1-gen-2015 ROBINO, ANTONIETTAVUCKOVIC, DRAGANABARBIERI, CATERINA MARIAGANDIN, ILARIAGIROTTO, GIORGIAPIRASTU, NicolaVOZZI, DIEGOGASPARINI, PAOLO +
Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss 1-gen-2013 GIROTTO, GIORGIAVOZZI, DIEGOLICASTRO, DANILOVUCKOVIC, DRAGANAGASPARINI, PAOLO +
Mevalonate kinase deficiency and IBD: shared genetic background 1-gen-2014 GIRARDELLI, MARTINAVOZZI, DIEGOCROVELLA, SERGIOMARCUZZI, ANNALISA +
Microarray and large-scale in silico-based identification of genes functionally related to Haptoglobin and/or Hemopexin. 1-gen-2006 VOZZI, DIEGOGASPARINI, PAOLO +