Sfoglia per Autore
Search for novel deafness genes by exome sequencing of autosomal recessive NSHL families
2011 G.M. Soldà, J. Zhang, R. Asselta, M. Robusto, Q. Zhang, J. Liang, X. Liu, P. Primignani, P. Castorina, U. Ambrosetti, Y. Yin, J. Wang, H. Yang, J. Wang, S. Duga
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss
2011 G.M. Soldà, M. Robusto, R. Asselta, P. Primignani, D. Coviello, P. Castorina, U. Ambrosetti, S. Duga
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing
2011 M. Robusto, R. Asselta, P. Primignani, P. Castorina, E. Benzoni, A. Cesarani, U. Ambrosetti, S. Duga, G. Soldà
Identification by exome capture and sequencing of two novel mutations in the PRPS1 gene in Italian families with nonsyndromic sensorineural hearing loss
2011 M. Robusto, J. Zhang, G. Soldà, R. Asselta, Q. Zhang, J. Liang, X. Liu, P. Primignani, P. Castorina, U. Ambrosetti, Y. Yin, J. Wang, H. Yang, J. Wang, S. Duga
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
2011 M. Robusto, G. Soldà, P. Primignani, P. Castorina, E. Benzoni, A. Cesarani, U. Ambrosetti, R. Asselta, S. Duga
Exome sequencing identifies PRPS1 as a major locus for X-linked nonsyndromic hearing loss in the Italian population
2012 M. Robusto, J. Zhang, R. Asselta, J. Liang, X. Liu, P. Primignani, P. Castorina, S. Caccia, U. Ambrosetti, Y. Yin, J. Wang, S. Duga, G. Soldà
Identification by exome sequencing and functional characterization of novel deafness-causing mutations in PRPS1
2012 M. Robusto, R. Asselta, S. Lancellotti, P. Primignani, P. Castorina, S. Caccia, U. Ambrosetti, S. Duga, G. Soldà
Identification of novel deafness-causing variants in the tmprss3 gene by whole-exome sequencing
2012 M. Robusto, R. Asselta, A. Ghilardi, P. Castorina, E. Benzoni, P. Primignani, U. Ambrosetti, L. Del Giacco, S. Caccia, S. Duga, G. Soldà
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia
2013 M. Robusto, P. Braidotti, S. Nastasio, G. Maggiore, F. Peyvandi, R. Asselta, S. Duga
INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE
2014 M. Robusto
Identification of novel NSHL-causing mutations by whole exome sequencing
2014 M. Robusto, C. Chiereghin, R. Asselta, P. Castorina, S. Caccia, E. Benzoni, M. Seia, U. Ambrosetti, S. Duga, G. Soldà
Identification by whole-exome sequencing of two novel LARS2 mutations in an Italian family with Perrault syndrome
2014 G. Soldà, M. Robusto, P. Castorina, U. Ambrosetti, R. Asselta, S. Duga
Congenital fibrinogen deficiency in Pakistan and identification of five novel mutations
2014 M. Borhany, M. Robusto, N. Fatima, T.S. Shamsi, R. Asselta, S. Duga, F. Peyvandi
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module
2015 R. Asselta, M. Robusto, P. Braidotti, F. Peyvandi, S. Nastasio, L. D'Antiga, V.N. Perisic, G. Maggiore, S. Caccia, S. Duga
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family
2016 G.M.E.A. Soldà, S. Caccia, M. Robusto, C. Chiereghin, P. Castorina, U. Ambrosetti, S. Duga
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
2021 C. Chiereghin, M. Robusto, L. Mauri, P. Primignani, P. Castorina, U. Ambrosetti, S. Duga, R. Asselta, G. Soldà
In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
2023 C. Chiereghin, M. Robusto, M.A. Lewis, S. Caetano, V. Massa, P. Castorina, U. Ambrosetti, K.P. Steel, S. Duga, R. Asselta, G. Soldà
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