LOI, ANGELA
LOI, ANGELA
Istituto di Ricerca Genetica e Biomedica - IRGB
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
2019 Buers, Insa; Persico, Ivana; Schoening, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi Puneet, Kaur; Utine Gulen, Eda; Bayraktartanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
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
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
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
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
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population
2015 Palomba G.; Loi A.; Porcu E.; Cossu A.; Zara I.; Budroni M.; Dei M.; Lai S.; Mulas A.; Olmeo N.; Ionta M.T.; Atzori F.; Cuccuru G.; Pitzalis M.; Zoledziewska M.; Olla N.; Lovicu M.; Pisano M.; Abecasis G.R.; Uda M.; Tanda F.; Michailidou K.; Easton D.F.; Chanock S.J.; Hoover R.N.; Hunter D.J.; Schlessinger D.; Sanna S.; Crisponi L.; Palmieri G.
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
2009 Palomba, G; Loi, A; Uras, A; Fancello, P; Piras, G; Gabbas, A; Cossu, A; Budroni, M; Contu, A; Tanda, F; Farris, A; Orrù, S; Floris, C; Pisano, M; Lovicu, M; Santona, Mc; Landriscina, G; Crisponi, L; Palmieri, G; Monne, M
Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function.
2008 Arnaudlopez, Lisette; Usala, Gianluca; Ceresini, Graziano; D Mitchell, Braxton; Grazia Pilia, Maria; Piras, MARIA GRAZIA; Sestu, Natascia; Maschio, Andrea; Busonero, Fabio; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Crisponi, Laura; Tanaka, Toshiko; Bandinelli, Stefania; M Guralnik, Jack; Loi, Angela; Balaci, Lenuta; Sole, Gabriella; Prinzis, Alessia; Mariotti, Stefano; R Shuldiner, Alan; Cao, Antonio; Schlessinger, David; Uda, Manuela; R Abecasis, Gonçalo; Nagaraja, Ramaiah; Sanna, Serena; Naitza, Silvia
Prevalence of BRCA1 and BRCA2 mutations in Sardinia
2008 Palomba, G; Loi, A; Fancello, P; Uras, A; Piras, G; Pilo, L; Gabbas, A; Cossu, A; Contu, A; Tanda, F; Farris, A; Desogus, A; Orru, S; Floris, C; Lovicu, M; Crisponi, L; Palmieri, G; Monne, M
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.
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
2001 Crisponi, Laura; Deiana, Manila; Loi, Angela; Chiappe, Francesca; Uda, Manuela; Amati, Patrizia; Bisceglia, Luigi; Zelante, Leopoldo; Nagaraja, Ramaiah; Porcu, Susanna; Serafina Ristaldi, M; Marzella, Rosalia; Rocchi, Mariano; Nicolino, Marc; Lienhardtroussie, Anne; Nivelon, Annie; Verloes, Alain; Schlessinger, David; Gasparini, Paolo; Bonneau, Dominique; Cao, Antonio; Pilia, Giuseppe
A novel mutation in the GLC1A gene causes Juvenile Open Angle Glaucoma in four families from the Italian region of Puglia.
1998 Angius, A; De Gioia, E; Loi, A; Fossarello, M; Sole, G; Orzalesi, N; Grignolo, F; Cao, A; Pirastu, M
Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.
1997 Fossarello M.; Zucca I.; Galantuomo S.; Serra A.; Pirastu M.; Loi A.; Sole G.; Cao A
Molecular pathology of Wilson disease in Mediterranean populations
1996 Loudianos, G; Dessì, V; Angius, A; Lovicu, M; Bettini, C; Loi, A; Sole, G; Olla, N; Figus, A; Cao, A; Pirastu, M
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
1996 G Loudianos; V Dessì; A Angius; M Lovicu; A Loi; M Deiana; N Akar; P Vairo; A Figus; A Cao; M Pirastu.
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts | 1-gen-2019 | Buers, Insa; Persico, Ivana; Schoening, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi Puneet, Kaur; Utine Gulen, Eda; Bayraktartanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Genome-wide association study of susceptibility loci for breast cancer in Sardinian population | 1-gen-2015 | Palomba G.; Loi A.; Porcu E.; Cossu A.; Zara I.; Budroni M.; Dei M.; Lai S.; Mulas A.; Olmeo N.; Ionta M.T.; Atzori F.; Cuccuru G.; Pitzalis M.; Zoledziewska M.; Olla N.; Lovicu M.; Pisano M.; Abecasis G.R.; Uda M.; Tanda F.; Michailidou K.; Easton D.F.; Chanock S.J.; Hoover R.N.; Hunter D.J.; Schlessinger D.; Sanna S.; Crisponi L.; Palmieri G. | |
| A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population | 1-gen-2009 | Palomba, G; Loi, A; Uras, A; Fancello, P; Piras, G; Gabbas, A; Cossu, A; Budroni, M; Contu, A; Tanda, F; Farris, A; Orrù, S; Floris, C; Pisano, M; Lovicu, M; Santona, Mc; Landriscina, G; Crisponi, L; Palmieri, G; Monne, M | |
| Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. | 1-gen-2008 | Arnaudlopez, Lisette; Usala, Gianluca; Ceresini, Graziano; D Mitchell, Braxton; Grazia Pilia, Maria; Piras, MARIA GRAZIA; Sestu, Natascia; Maschio, Andrea; Busonero, Fabio; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Crisponi, Laura; Tanaka, Toshiko; Bandinelli, Stefania; M Guralnik, Jack; Loi, Angela; Balaci, Lenuta; Sole, Gabriella; Prinzis, Alessia; Mariotti, Stefano; R Shuldiner, Alan; Cao, Antonio; Schlessinger, David; Uda, Manuela; R Abecasis, Gonçalo; Nagaraja, Ramaiah; Sanna, Serena; Naitza, Silvia | |
| Prevalence of BRCA1 and BRCA2 mutations in Sardinia | 1-gen-2008 | Palomba, G; Loi, A; Fancello, P; Uras, A; Piras, G; Pilo, L; Gabbas, A; Cossu, A; Contu, A; Tanda, F; Farris, A; Desogus, A; Orru, S; Floris, C; Lovicu, M; Crisponi, L; Palmieri, G; Monne, M | |
| 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. | |
| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome | 1-gen-2001 | Crisponi, Laura; Deiana, Manila; Loi, Angela; Chiappe, Francesca; Uda, Manuela; Amati, Patrizia; Bisceglia, Luigi; Zelante, Leopoldo; Nagaraja, Ramaiah; Porcu, Susanna; Serafina Ristaldi, M; Marzella, Rosalia; Rocchi, Mariano; Nicolino, Marc; Lienhardtroussie, Anne; Nivelon, Annie; Verloes, Alain; Schlessinger, David; Gasparini, Paolo; Bonneau, Dominique; Cao, Antonio; Pilia, Giuseppe | |
| A novel mutation in the GLC1A gene causes Juvenile Open Angle Glaucoma in four families from the Italian region of Puglia. | 1-gen-1998 | Angius, A; De Gioia, E; Loi, A; Fossarello, M; Sole, G; Orzalesi, N; Grignolo, F; Cao, A; Pirastu, M | |
| Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia. | 1-gen-1997 | Fossarello M.; Zucca I.; Galantuomo S.; Serra A.; Pirastu M.; Loi A.; Sole G.; Cao A | |
| Molecular pathology of Wilson disease in Mediterranean populations | 1-gen-1996 | Loudianos, G; Dessì, V; Angius, A; Lovicu, M; Bettini, C; Loi, A; Sole, G; Olla, N; Figus, A; Cao, A; Pirastu, M | |
| Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients | 1-gen-1996 | G Loudianos; V Dessì; A Angius; M Lovicu; A Loi; M Deiana; N Akar; P Vairo; A Figus; A Cao; M Pirastu. | |
| 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 |