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7 publications Download the list

Publications in 2016

Peer-reviewed publications in International Journals

[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

Publications in 2015

Various talks, works and publications

[6-UPO15]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Paolo Uva, Alessandro Puddu, Manuela Oppo, Stefano Onano, Loredana Marcia, Manila Deiana, Angela Loi, Mara Marongiu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius, Laura Crisponi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015

Publications in 2014

Peer-reviewed publications in International Journals

[2-PPO14]

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro, Ashok Vellodi, Blanca Gener, Isabel Liano-Rivas, Jamal Raza, Irum Aatta, Paolo Vezzoni, Andrea Superti-Fuga, Anna Villa, Cristina Sobacchi

Bone Elsevier pages 122-126 vol. 59 num. 59 - february 2014 doi: 10.1016/j.bone.2013.11.014

Various talks, works and publications

[6-PPS14]

New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations

Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

[6-COU14]

Unravelling the genetic causes of syndromic intellectual disability in the era of exome sequencing

Laura Crisponi, Manuela Oppo, Paolo Uva, Stefano Onano, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Ilenia Zara, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Maria Valentini, Christopher M. S. Jones, Serena Sanna, Alessia Loi, V Dessi, Chiara Perria, Valentina Pes, Gigliola Serra, Stefano Sotgiu, Andrea Angius, Francesco Cucca

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

[6-CUO14]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Laura Crisponi, Paolo Uva, Stefano Onano, Manuela Oppo, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

Publications in 2013

Peer-reviewed publications in international events

[4-MPB13]

Whole-exome sequencing in pedigrees segregating Type 1 Diabetes

Elisabetta Mereu, Maristella Pitzalis, Riccardo Berutti, Manuela Oppo, Carlo Sidore, Magdalena Zoledziewska, Laura Crisponi, Maria Valentini, Alessandro Puddu, Ilenia Zara, Francesca Deidda, Frederic Reinier, Renzo Galanello, P. Pusceddu, M. Frongia, Christopher M. S. Jones, Andrea Angius, Serena Sanna, Francesco Cucca

ESHG (European Society of Human Genetics) 2013 - june 2013

7 publications Download the list