ZANETTI, ALESSANDRA

ZANETTI, ALESSANDRA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro genetransfer for the production and release of recombinant iduronate-2-sulfatase (IDS) 2008 FRISO, ADELAIDETOMANIN, ROSELLAZANETTI, ALESSANDRAMARIN, ORIANOZACCHELLO, FRANCOSCARPA, MAURIZIO + BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - -
Caratterizzazione molecolare delle variazioni di sequenza del gene hIDS in pazienti affetti da sindrome di Hunter 2008 Zanetti, Alessandra - - -
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G > A (p.S384N) as to be a polymorphism 2009 ZANETTI, ALESSANDRASCARPA, MAURIZIO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
RNA-seq Transcriptome Profiling Of Primary Hunter Cells Following Treatment With Recombinant IDS As A First Step For Identification Of ERT Efficacy Markers 2011 SCARPA, MAURIZIOZANETTI, ALESSANDRAD'AVANZO, FRANCESCASALVALAIO, MARIKARIGON, LAURACAMPANARO, STEFANOVALLE, GIORGIOTOMANIN, ROSELLA + MOLECULAR GENETICS AND METABOLISM - Molecular Genetics and Metabolism
Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases. 2012 TOMANIN, ROSELLAZANETTI, ALESSANDRAD'AVANZO, FRANCESCASCARPA, MAURIZIO + ACTA PAEDIATRICA - -
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment 2013 TOMANIN, ROSELLAD'AVANZO, FRANCESCASALVALAIO, MARIKARIGON, LAURAZANETTI, ALESSANDRASCARPA, MAURIZIO + BMC MEDICAL GENOMICS - BMC Medical Genomics
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 2014 ZANETTI, ALESSANDRATOMANIN, ROSELLARAMPAZZO, ANGELICARIGON, CHIARAGASPAROTTO, NICOLETTACASSINA, MATTEOCLEMENTI, MAURIZIOSCARPA, MAURIZIO JIMD REPORTS - -
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years 2014 TOMANIN, ROSELLAZANETTI, ALESSANDRAD'AVANZO, FRANCESCARAMPAZZO, ANGELICAGASPAROTTO, NICOLETTABORGO, ANDREAFRIGO, ANNA CHIARASCARPA, MAURIZIO + ORPHANET JOURNAL OF RARE DISEASES - -
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model 2017 Salvalaio, MarikaD’Avanzo, FrancescaRIGON, LAURAZanetti, AlessandraD’Angelo, MichelaValle, GiorgioScarpa, MaurizioTomanin, Rosella INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization 2017 BERTOLDI, LORISFORCATO, CLAUDIOVITULO, NICOLABIROLO, GIOVANNIDE PASCALE, FABIOFELTRIN, ERIKASCHIAVON, RICCARDOANGLANI, FRANCANEGRISOLO, SUSANNAZANETTI, ALESSANDRAD'AVANZO, FRANCESCATOMANIN, ROSELLAVEZZI, ALESSANDROVALLE, GIORGIO + BMC BIOINFORMATICS - -
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study 2019 Zanetti A.D'Avanzo F.Rigon L.Rampazzo A.Scarpa M.Tomanin R. + EUROPEAN JOURNAL OF PEDIATRICS - -
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders 2020 Zanetti A.D'Avanzo F.Bertoldi L.Zampieri G.Feltrin E.De Pascale F.Rampazzo A.Forzan M.Valle G.Tomanin R. THE JOURNAL OF MOLECULAR DIAGNOSTICS - -
Mucopolysaccharidosis type II: One hundred years of research, diagnosis, and treatment 2020 Dʹavanzo F.Rigon L.Zanetti A.Tomanin R. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -