OPPO, MANUELA
OPPO, MANUELA
Istituto di Ricerca Genetica e Biomedica - IRGB
Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex.
2017 Cossu, S; Angius, A; Oppo, M; Onano, S; Persico, I; Uva, P; Cuccuru, G; Asunis, M; Crisponi, L; Pruna, D
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
2016 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
2015 Palagano, E; Blair, Hc; Pangrazio, A; Tourkova, I; Strina, D; Angius, A; Cuccuru, G; Oppo, M; Uva, P; Van Hul, W; Boudin, E; Supertifurga, A; Faletra, F; Nocerino, A; Ferrari, Mc; Grappiolo, G; Monari, M; Montanelli, A; Vezzoni, P; Villa, A; Sobacchi, C
Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing.
2012 Ilenia Zara; Manuela Oppo; Francesca Chiappe; Frederic Reinier; Riccardo Berutti; Rossano Atzeni; Chris Jones; Veronica Dessì; Chiara Perria; Valentina Pes; Gigliola Serra; Maria Valentini; Andrea Angius; Serena Sanna; Francesco Cucca; Laura Crisponi.
Genetic Associations with the Variation in Aging from the SardiNIA/Progenia Project.
2011 J. BraggGresham; S. Sanna; S. Kardia; G. Abecasis; M. Uda; C. Sidore; F. Cucca; A. Cao; A. Mulas; F. Busonero; F. Reinier; R. Berutti; A. Maschio; M. Urru; M. Marcelli; R. Cusano; M. Oppo; M. Pitzalis; M. Zoledziewska; A. Angus; et al
hole Genome Sequencing of 1000 Individuals in an Isolated Population.
2011 Sidore, C; Sanna, S; Busonero, F; Chen, W; M Kang, H; Fuchsberger, C; Reinier, F; Berutti, R; Hovelson, D; F Urru, M; Marcelli, M; Cusano, R; Oppo, M; Maschio, A; Pitzalis, M; Zoledziewska, M; Angius, A; Nagaraja, R; Uda, M; Schlessinger, D; Al, Et
Likelihood Based Deletion Analysis in a Sample of Sequenced Sardinian Individuals.
2011 S. Rashkin; T. Blackwell; C. Sidore; S. Sanna; F. Busonero; W. Chen; H. M. Kang; C. Fuchsberger; F. Reinier; R. Berutti; F. Deidda; M. F. Urru; M. Marcelli; R. Cusano; M. Oppo; A. Maschio; M. Pitzalis; M. Zoledziewska; A. Angius; R. Nagaraja; Uda et al
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex. | 1-gen-2017 | Cossu, S; Angius, A; Oppo, M; Onano, S; Persico, I; Uva, P; Cuccuru, G; Asunis, M; Crisponi, L; Pruna, D | |
| Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | 1-gen-2016 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. | 1-gen-2015 | Palagano, E; Blair, Hc; Pangrazio, A; Tourkova, I; Strina, D; Angius, A; Cuccuru, G; Oppo, M; Uva, P; Van Hul, W; Boudin, E; Supertifurga, A; Faletra, F; Nocerino, A; Ferrari, Mc; Grappiolo, G; Monari, M; Montanelli, A; Vezzoni, P; Villa, A; Sobacchi, C | |
| Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing. | 1-gen-2012 | Ilenia Zara; Manuela Oppo; Francesca Chiappe; Frederic Reinier; Riccardo Berutti; Rossano Atzeni; Chris Jones; Veronica Dessì; Chiara Perria; Valentina Pes; Gigliola Serra; Maria Valentini; Andrea Angius; Serena Sanna; Francesco Cucca; Laura Crisponi. | |
| Genetic Associations with the Variation in Aging from the SardiNIA/Progenia Project. | 1-gen-2011 | J. BraggGresham; S. Sanna; S. Kardia; G. Abecasis; M. Uda; C. Sidore; F. Cucca; A. Cao; A. Mulas; F. Busonero; F. Reinier; R. Berutti; A. Maschio; M. Urru; M. Marcelli; R. Cusano; M. Oppo; M. Pitzalis; M. Zoledziewska; A. Angus; et al | |
| hole Genome Sequencing of 1000 Individuals in an Isolated Population. | 1-gen-2011 | Sidore, C; Sanna, S; Busonero, F; Chen, W; M Kang, H; Fuchsberger, C; Reinier, F; Berutti, R; Hovelson, D; F Urru, M; Marcelli, M; Cusano, R; Oppo, M; Maschio, A; Pitzalis, M; Zoledziewska, M; Angius, A; Nagaraja, R; Uda, M; Schlessinger, D; Al, Et | |
| Likelihood Based Deletion Analysis in a Sample of Sequenced Sardinian Individuals. | 1-gen-2011 | S. Rashkin; T. Blackwell; C. Sidore; S. Sanna; F. Busonero; W. Chen; H. M. Kang; C. Fuchsberger; F. Reinier; R. Berutti; F. Deidda; M. F. Urru; M. Marcelli; R. Cusano; M. Oppo; A. Maschio; M. Pitzalis; M. Zoledziewska; A. Angius; R. Nagaraja; Uda et al |