Silvia Cattarossi

Affiliations

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.

Publications (5)

The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Clinical genetics

Avec: Stefania Zampieri , Silvia Cattarossi , Lorenzo Ferri , Claudio Graziano , Marisa Santostefano , Amelia Morrone , Andrea Dardis

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

International journal of molecular sciences

Avec: Eleonora Pavan , Paolo Peruzzo , Silvia Cattarossi , Natascha Bergamin , Andrea Bordugo , Annalisa Sechi , Maurizio Scarpa , Jessica Biasizzo , Fabiana Colucci , Andrea Dardis

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18

Journal of clinical medicine

Avec: Andrea Dardis , Stefania Zampieri , Cinzia Gellera , Rosalba Carrozzo , Silvia Cattarossi , Paolo Peruzzo , Rosalia Dariol , Annalisa Sechi , Federica Deodato , Claudio Caccia , Daniela Verrigni , Serena Gasperini , Agata Fiumara , Simona Fecarotta , Miryam Carecchio , Massimiliano Filosto , Lucia Santoro , Barbara Borroni , Andrea Bordugo , Francesco Brancati , Cinzia V Russo , Maja Di Rocco , Antonio Toscano , Maurizio Scarpa , Bruno Bembi

A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation.

Disease markers

Avec: Catia Mio , Adriana Cifù , Stefania Marzinotto , Natascha Bergamin , Chiara Caldana , Silvia Cattarossi , Sara Cmet , Annarosa Cussigh , Romina Martinella , Jessica Zucco , Roberto Verardo , Claudio Schneider , Barbara Marcon , Stefania Zampieri , Corrado Pipan , Francesco Curcio

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.

International journal of molecular sciences

Avec: Stefania Zampieri , Silvia Cattarossi , Eleonora Pavan , Antonio Barbato , Agata Fiumara , Paolo Peruzzo , Maurizio Scarpa , Giovanni Ciana , Andrea Dardis

Réseau de co-auteurs

Stefania Zampieri 4 collaborations

Andrea Dardis 4 collaborations

Paolo Peruzzo 3 collaborations

Maurizio Scarpa 3 collaborations

Eleonora Pavan 2 collaborations

Natascha Bergamin 2 collaborations

Andrea Bordugo 2 collaborations

Annalisa Sechi 2 collaborations

Agata Fiumara 2 collaborations

Lorenzo Ferri 1 collaboration

Claudio Graziano 1 collaboration

Marisa Santostefano 1 collaboration

Amelia Morrone 1 collaboration

Jessica Biasizzo 1 collaboration

Fabiana Colucci 1 collaboration

Cinzia Gellera 1 collaboration

Rosalba Carrozzo 1 collaboration

Rosalia Dariol 1 collaboration

Federica Deodato 1 collaboration

Claudio Caccia 1 collaboration

Daniela Verrigni 1 collaboration

Serena Gasperini 1 collaboration

Simona Fecarotta 1 collaboration

Miryam Carecchio 1 collaboration

Massimiliano Filosto 1 collaboration

Lucia Santoro 1 collaboration

Barbara Borroni 1 collaboration

Francesco Brancati 1 collaboration

Cinzia V Russo 1 collaboration

Maja Di Rocco 1 collaboration

Antonio Toscano 1 collaboration

Bruno Bembi 1 collaboration

Catia Mio 1 collaboration

Adriana Cifù 1 collaboration

Stefania Marzinotto 1 collaboration

Chiara Caldana 1 collaboration

Sara Cmet 1 collaboration

Annarosa Cussigh 1 collaboration

Romina Martinella 1 collaboration

Jessica Zucco 1 collaboration

Roberto Verardo 1 collaboration

Claudio Schneider 1 collaboration

Barbara Marcon 1 collaboration

Corrado Pipan 1 collaboration

Francesco Curcio 1 collaboration

Antonio Barbato 1 collaboration

Giovanni Ciana 1 collaboration