DEIANA, MANILA
DEIANA, MANILA
Istituto di Ricerca Genetica e Biomedica - IRGB
BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype.
2008 Uda, M; Galanello, R; Sanna, S; Lettre, G; G Sankaran, V; Usala, G; Busonero, F; Maschio, A; Lai, S; Crisponi, L; Naitza, S; Asunis, I; Deiana, M; Marongiu, M; Porcu, L; Lovicu, M; Nagaraja, R; Perseu, L; Satta, S; Moi, P; H Orkin, S; Al, Et
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
Crisponi Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity
2007 L. Crisponi; A. Meloni; M. Marongiu; F. Chiappe; M. Deiana; L. Marcia; G. Zampino; P. Nürnberg; G. Crisponi; F. Rutsch.
Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity
2008 Laura Crisponi; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Giuseppe Zampino; Peter Nürnberg; Giangiorgio Crisponi; Frank Rutsch.
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders
2011 Herholz, Jana; Meloni, Alessandra; Marongiu, Mara; Chiappe, Francesca; Chiappe, Francesca; Deiana, Manila; Herrero Carmen, Roche; Zampino, Giuseppe; Hamamy, Hanan; Zalloum, Yusra; Waaler Per, Erik; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
2011 Herholz J; Meloni A; Marongiu M; Chiappe F; Deiana M; Herrero CR; Zampino G; Hamamy H; Zalloum Y; Waaler PE; Crisponi G; Crisponi L; Rutsch F.
Dissection of the BAFF pathway in Multiple Sclerosis with a view toward more specific and effective therapies
2019 Olla, S; Idda, Ml; Deiana, M; Delogu, G; Lodde, V; Steri, M; Orrù, V; Floris, M; Pitzalis, M Pala M; Sidore, C; Mulas, A; Piras, Mg; Lobina, M; Lai, S; Marongiu, Mara; Serra, V; Marongiu, Michele; Sole, G; Busonero, F; Maschio, A; Dei, M; Deidda, F; Poddie, F; Farina, G; Frau, J; Costa, G; Coghe, G; Lorefice, L; Fenu, G; Marrosu, Mg; Cocco, E; Fiorillo, E; Zoledziewska, M; Cucca, F
Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026))
2018 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, 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, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
2004 Uda, Manuela; Ottolenghi, Chris; Crisponi, Laura; Elias Garcia, Jose; Deiana, Manila; Kimber, Wendy; Forabosco, Antonino; Cao, Antonio; Schlessinger, David; Pilia, Giuseppe
FOXL2 inactivation by a translocation 171 kb away: Analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences
2004 Crisponi, Laura; Uda, Manuela; Uda, Manuela; Deiana, Manila; Loi, Angela; Nagaraja, Ramaiah; Chiappe, Francesca; Schlessinger, David; Cao, Antonio; Pilia, Giuseppe
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
2004 Crisponi L; Uda M; Deiana M; Loi A; Nagaraja R; Chiappe F; Schlessinger D; Cao A; Pilia G.
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
2015 Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura
FOXL2: Forkhead transcription factor and Blepharophimosis/Ptosis/Epicanthus inversus syndrome (BPES)
2007 Laura Crisponi; Chris Ottolenghi; Mara Marongiu; Francesca Chiappe; Manila Deiana; Loredana Marcia; Antonio Cao; Antonino Forabosco; David Schlessinger; Manuela Uda.
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
2008 Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G. Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N. Hirschhorn; Stuart H. Orkin; Gonçalo R. Abecasis; David Schlessinger;Antonio Cao
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
2006 Pilia, G; Chen, Weimin; Scuteri, A; Orru, M; Albai, G; Dei, M; Lai, S; Usala, G; Lai, M; Loi, P; Mameli, C; Vacca, L; Deiana, M; Olla, N; Masala, M; Cao, A; Najjar, Ss; Terracciano, A; Nedorezov, Tt; Sharov, A; B Zonderman, A; Abecasis, Gr; Costa, P; Lakatta, E; Schlessinger, D
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.
1994 Loudianos, G; Figus, Al; Loi, A; Angius, A; Dessì, V; Deiana, M; Devirgiliis, S; Monni, G; Cao, A; Pirastu, M
Microarray and functional analyses of primordial follicles formation and the etiology of premature ovarian failure.
2003 C. Ottolenghi; M. Uda; L. Herrera; E. Garcia; A. Forabosco; D. Schlessinger; L. Crisponi; M. Deiana; G. Pilia.
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
1995 Correction Figus, Annalena; Angius, Andrea; Loudianos, Georgios; Bertini, Chiara; Dessi, Valeria; Loi, Angela; Deiana, Manila; Lovicu, Mario; Olla, Nazario; Sole, Gabriella; De Virgiliis, Stefano; Lilliu, Franco; Farci Anna Maria, Giulia; Nurchi, Annamaria; Giacchino, Raffaella; Barabino, Arrigo; Marazzi, Maria; Zancan, Lucia; Greggio Nella, A; Marcellini, Matilde; Solinas, Antonello; Deplano, Angelo; Barbera, Cristiana; Devoto, Marcella; Ozsoylu, Sinasi; Kocak, Nurten; Akar, Nejat; Karayalcin, Selin; Mokini, Vahe; Cullufi, Paskal; Balestrieri, Angelo; Cao, Antonio; Cao, Antonio; Pirastu, Mario
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation
2016 Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura
Overexpression of the Cytokine BAFF and Autoimmunity Risk
2017 Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, V.; Floris, M.; Deiana, M.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, M. G.; Lobina, M.; Lai, S.; Marongiu, M.; Serra, V.; Marongiu, M.; Sole, G.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, M. A.; Pani, M.; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; CastilloPalma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, A.; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, A.; Sanna, S.; Gorospe, M.; Schlessinger, D.; Fiorillo, E.; Zoledziewska, M.; Cucca, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| BCL11A is associated with persistent HbF and ameliorates the ²-thalassemia phenotype. | 1-gen-2008 | Uda, M; Galanello, R; Sanna, S; Lettre, G; G Sankaran, V; Usala, G; Busonero, F; Maschio, A; Lai, S; Crisponi, L; Naitza, S; Asunis, I; Deiana, M; Marongiu, M; Porcu, L; Lovicu, M; Nagaraja, R; Perseu, L; Satta, S; Moi, P; H Orkin, S; Al, Et | |
| 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 | |
| Crisponi Syndrome and Cold-Induced Sweating Type 1: Two Syndromes - One Genetic Entity | 1-gen-2007 | L. Crisponi; A. Meloni; M. Marongiu; F. Chiappe; M. Deiana; L. Marcia; G. Zampino; P. Nürnberg; G. Crisponi; F. Rutsch. | |
| Crisponi Syndrome and Cold-induced Sweating Type 1: two syndromes, but one genetic entity | 1-gen-2008 | Laura Crisponi; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Giuseppe Zampino; Peter Nürnberg; Giangiorgio Crisponi; Frank Rutsch. | |
| Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders | 1-gen-2011 | Herholz, Jana; Meloni, Alessandra; Marongiu, Mara; Chiappe, Francesca; Chiappe, Francesca; Deiana, Manila; Herrero Carmen, Roche; Zampino, Giuseppe; Hamamy, Hanan; Zalloum, Yusra; Waaler Per, Erik; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. | 1-gen-2011 | Herholz J; Meloni A; Marongiu M; Chiappe F; Deiana M; Herrero CR; Zampino G; Hamamy H; Zalloum Y; Waaler PE; Crisponi G; Crisponi L; Rutsch F. | |
| Dissection of the BAFF pathway in Multiple Sclerosis with a view toward more specific and effective therapies | 1-gen-2019 | Olla, S; Idda, Ml; Deiana, M; Delogu, G; Lodde, V; Steri, M; Orrù, V; Floris, M; Pitzalis, M Pala M; Sidore, C; Mulas, A; Piras, Mg; Lobina, M; Lai, S; Marongiu, Mara; Serra, V; Marongiu, Michele; Sole, G; Busonero, F; Maschio, A; Dei, M; Deidda, F; Poddie, F; Farina, G; Frau, J; Costa, G; Coghe, G; Lorefice, L; Fenu, G; Marrosu, Mg; Cocco, E; Fiorillo, E; Zoledziewska, M; Cucca, F | |
| Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026)) | 1-gen-2018 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, 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, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. | 1-gen-2004 | Uda, Manuela; Ottolenghi, Chris; Crisponi, Laura; Elias Garcia, Jose; Deiana, Manila; Kimber, Wendy; Forabosco, Antonino; Cao, Antonio; Schlessinger, David; Pilia, Giuseppe | |
| FOXL2 inactivation by a translocation 171 kb away: Analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences | 1-gen-2004 | Crisponi, Laura; Uda, Manuela; Uda, Manuela; Deiana, Manila; Loi, Angela; Nagaraja, Ramaiah; Chiappe, Francesca; Schlessinger, David; Cao, Antonio; Pilia, Giuseppe | |
| FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. | 1-gen-2004 | Crisponi L; Uda M; Deiana M; Loi A; Nagaraja R; Chiappe F; Schlessinger D; Cao A; Pilia G. | |
| FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice | 1-gen-2015 | Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura | |
| FOXL2: Forkhead transcription factor and Blepharophimosis/Ptosis/Epicanthus inversus syndrome (BPES) | 1-gen-2007 | Laura Crisponi; Chris Ottolenghi; Mara Marongiu; Francesca Chiappe; Manila Deiana; Loredana Marcia; Antonio Cao; Antonino Forabosco; David Schlessinger; Manuela Uda. | |
| Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. | 1-gen-2008 | Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G. Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N. Hirschhorn; Stuart H. Orkin; Gonçalo R. Abecasis; David Schlessinger;Antonio Cao | |
| Heritability of cardiovascular and personality traits in 6,148 Sardinians. | 1-gen-2006 | Pilia, G; Chen, Weimin; Scuteri, A; Orru, M; Albai, G; Dei, M; Lai, S; Usala, G; Lai, M; Loi, P; Mameli, C; Vacca, L; Deiana, M; Olla, N; Masala, M; Cao, A; Najjar, Ss; Terracciano, A; Nedorezov, Tt; Sharov, A; B Zonderman, A; Abecasis, Gr; Costa, P; Lakatta, E; Schlessinger, D | |
| Improvement of prenatal diagnosis of Wilson disease using microsatellite markers. | 1-gen-1994 | Loudianos, G; Figus, Al; Loi, A; Angius, A; Dessì, V; Deiana, M; Devirgiliis, S; Monni, G; Cao, A; Pirastu, M | |
| Microarray and functional analyses of primordial follicles formation and the etiology of premature ovarian failure. | 1-gen-2003 | C. Ottolenghi; M. Uda; L. Herrera; E. Garcia; A. Forabosco; D. Schlessinger; L. Crisponi; M. Deiana; G. Pilia. | |
| Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations | 1-gen-1995 | Correction Figus, Annalena; Angius, Andrea; Loudianos, Georgios; Bertini, Chiara; Dessi, Valeria; Loi, Angela; Deiana, Manila; Lovicu, Mario; Olla, Nazario; Sole, Gabriella; De Virgiliis, Stefano; Lilliu, Franco; Farci Anna Maria, Giulia; Nurchi, Annamaria; Giacchino, Raffaella; Barabino, Arrigo; Marazzi, Maria; Zancan, Lucia; Greggio Nella, A; Marcellini, Matilde; Solinas, Antonello; Deplano, Angelo; Barbera, Cristiana; Devoto, Marcella; Ozsoylu, Sinasi; Kocak, Nurten; Akar, Nejat; Karayalcin, Selin; Mokini, Vahe; Cullufi, Paskal; Balestrieri, Angelo; Cao, Antonio; Cao, Antonio; Pirastu, Mario | |
| Novel action of FOXL2 as mediator of Col1a2 gene autoregulation | 1-gen-2016 | Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura | |
| Overexpression of the Cytokine BAFF and Autoimmunity Risk | 1-gen-2017 | Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, V.; Floris, M.; Deiana, M.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, M. G.; Lobina, M.; Lai, S.; Marongiu, M.; Serra, V.; Marongiu, M.; Sole, G.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, M. A.; Pani, M.; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; CastilloPalma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, A.; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, A.; Sanna, S.; Gorospe, M.; Schlessinger, D.; Fiorillo, E.; Zoledziewska, M.; Cucca, F. |