Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Meeting, Marzo 2017, Riva del Garda - march 2017

Internal reports

[8-ATC17]

Galaxy for Bioinformatics tool developers - training course material

Rossano Atzeni, Marco Antonio Tangaro, Gianmauro Cuccuru, Paolo Uva

BITS http://bioinformatics.it/ - july 2017

Publications en 2016

Books and Book Chapters

[1-OCU16]

Data Mining Techniques for the Life Sciences

Massimiliano Orsini, Gianmauro Cuccuru, Paolo Uva, Giorgio Fotia

Springer, chap. Bacterial Genomic Data Analysis in the Next-Generation Sequencing Era, pages 407--422 Methods in Molecular Biology vol. 1415 - april 2016

Peer-reviewed publications in International Journals

[2-PSM16]

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Eleonora Palagano, Lucia Susani, Ciro Menale, Ugo Ramenghi, Massimo Berger, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research - 2016 doi: 10.1002/jbmr.2929

[2-AUB16]

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016 doi: 10.1016/j.ajhg.2016.05.026

[2-PAF16]

A microarray analysis highlights the role of tetrapyrrole pathways in grapevine responses to stolbur phytoplasma, phloem virus infections and recovered status

Federico Punelli, Mohamad Al Hassan, Veronica Fileccia, Paolo Uva, Graziella Pasquini, Federico Martinelli

Physiological and Molecular Plant Pathology pages 129-137 vol. 93 - january 2016 doi: 10.1016/j.pmpp.2016.01.001

Peer-reviewed publications in international events

[4-PZM16]

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

Eleonora Palagano, Giulia Zuccarini, Stefano Mantero, Daniele Conte, Andrea Angius, Paolo Uva, Paolo Prontera, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi

43rd Annual European Calcified Tissue Society Congress - april 2016 doi: 10.1530/boneabs.5.P244

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[6-UDO16]

The importance of an Italian exome database for the study of rare diseases

Paolo Uva, Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia

Oral presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - 2016

[6-R.U16]

Ricerca di geni coinvolti in immunodeficienze primarie (PID) e in malattie autoinfiammatorie (AIDs) tramite whole-exome sequencing

Marta Rusmini, ..., Paolo Uva, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - november 2016

[6-CAL16]

A robust and extensible framework for tracking biodata provenance, analysis workflows and results

Gianmauro Cuccuru, Rossano Atzeni, Luca Lianas, Ricardo Medda, Luca Pireddu, Paolo Uva, Ilenia Zara, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at Nettab, October 2016, Rome - october 2016

[6-CMU16]

Lack of MIR-127 down-regulation in the transition from hematopoietic stem cells to multi-potent progenitors leads to pancytopenia and defective self-renewal

Laura Crisafulli, Sharon Muggeo, Paolo Uva, Lucia Susani, Michael Cleary, Paolo Vezzoni, Bernhard Gentner, Francesca Ficara

Poster presentation at 21st Congress of European Hematology Association, June 9-12 2016, Copenhagen - june 2016

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ...

Oral communication at ESHG 2016, Barcelona, Spain, May 20 2016 - may 2016

[6-UVA16]

Next Generation Sequencing: al gene al genoma

Paolo Uva

Invited speaker at Convegno NGS, Genova, 15 Gennaio 2016 - january 2016

Publications en 2015

Peer-reviewed publications in International Journals

[2-MUD15]

Keppen-Lubinsky syndrome is caused by mutations in the inwardly-rectifying K+ channel encoded by KCNJ6

Andrea Masotti, Paolo Uva, Laura Davis-Keppen, Lina Basel-Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paolo Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola

American Journal of Human Genetics - 2015 doi: 10.1016/j.ajhg.2014.12.011

[2-PBP15]

Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Paolo Uva, Wim Van Hul, Eveline Boudin, Andrea Superti-Furga, Flavio Faletra, Agostino Nocerino, Matteo C. Ferrari, Marta Monari, Alessandro Montanelli, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research Wiley - 2015 doi: 10.1002/jbmr.2517

Afficher toute la liste (133 publications) Download the selection

1 .. 3 4 5 .. 7