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LOI, ANGELA

LOI, ANGELA  

Istituto di Ricerca Genetica e Biomedica - IRGB  

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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
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
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. 1-gen-2001 Crisponi, L; Deiana, M; Loi, A; Chiappe, F; Uda, M; Amati, P; Bisceglia, L; Zelante, L; Nagaraja, R; Porcu, S; Ristaldi, MARIA SERAFINA; Marzella, R; Rocchi, M; Nicolino, M; Lienhardt-Roussie, A; Nivelon, A; Verloes, A; Schlessinger, D; Gasparini, P; Bonneau, D; Cao, A; Pilia, G
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