DI FEO, MARIA FRANCESCA
DI FEO, MARIA FRANCESCA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
Congenital Nasal Bones Agenesis: Report of a Rare Malformation
2024-01-01 Russo, Monica; Ferrecchi, Chiara; Rebella, Silvia; Capra, Valeria; Ameli, Franco; Pacetti, Mattia; Di Feo, Maria Francesca; De Biasio, Pierangela; Arioni, Cesare
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach
2022-01-01 Di Feo, Maria Francesca; Bettio, Cinzia; Salsi, Valentina; Bertucci, Emma; Tupler, Rossella
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review
2024-01-01 Romano, Ferruccio; Haanpää, Maria K; Pomianowski, Pawel; Peraino, Amanda Rose; Pollard, John R; Di Feo, Maria Francesca; Traverso, Monica; Severino, Mariasavina; Derchi, Maria; Henzen, Edoardo; Zara, Federico; Faravelli, Francesca; Capra, Valeria; Scala, Marcello
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
2025-01-01 Lillback, Victoria; Bergant, Gaber; Di Feo, Maria Francesca; Bozović, Ivana Babić; Torella, Annalaura; Johari, Mridul; Maver, Aleš; Pelin, Katarina; Santorelli, Filippo M M; Nigro, Vincenzo; Hackman, Peter; Peterlin, Borut; Udd, Bjarne; Savarese, Marco
Inferring disease course from differential exon usage in the wide titinopathy spectrum
2024-01-01 Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A.; Attie‐bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Novel missense variants associated with GNE myopathy
2025-01-01 Ranta-Aho, Johanna; Cetrangolo, Viviana; Bello, Luca; Capece, Giuliana; Pegoraro, Elena; Feo, Maria Francesca Di; Mihaylova, Violeta; Jung, Hans H; Hauw, Fabien; Stojkovic, Tanya; Behin, Anthony; Romero, Norma; Maisonobe, Thierry; Lucchini, Matteo; Oliveira Santos, Miguel; Mirabella, Massimiliano; Tasca, Giorgio; Savarese, Marco; Udd, Bjarne; Johari, Mridul
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
2025-01-01 Sian, Veronica; Di Feo, Maria Francesca; Kurbatov, Sergei; Vihola, Anna; Luque, Helena; Konovalov, Fedor; Peric, Stojan; Duffy, Cathrina; Kornblum, Cornelia; Claeys, Kristl G.; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Salih Myopathy
2025-01-01 Hackman, Peter; Savarese, Marco; Di Feo, Maria Francesca; Udd, Bjarne; A Salih, Mustafa
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
2023-01-01 Di Feo, Maria Francesca; Lillback, Victoria; Jokela, Manu; Mcentagart, Meriel; Homfray, Tessa; Giorgio, Elisa; Casalis Cavalchini, Guido C; Brusco, Alfredo; Iascone, Maria; Spaccini, Luigina; D'Oria, Patrizia; Savarese, Marco; Udd, Bjarne
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Congenital Nasal Bones Agenesis: Report of a Rare Malformation | 1-gen-2024 | Russo, Monica; Ferrecchi, Chiara; Rebella, Silvia; Capra, Valeria; Ameli, Franco; Pacetti, Mattia; Di Feo, Maria Francesca; De Biasio, Pierangela; Arioni, Cesare | |
| Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach | 1-gen-2022 | Di Feo, Maria Francesca; Bettio, Cinzia; Salsi, Valentina; Bertucci, Emma; Tupler, Rossella | |
| Expanding the phenotype of UPF3B-related disorder: Case reports and literature review | 1-gen-2024 | Romano, Ferruccio; Haanpää, Maria K; Pomianowski, Pawel; Peraino, Amanda Rose; Pollard, John R; Di Feo, Maria Francesca; Traverso, Monica; Severino, Mariasavina; Derchi, Maria; Henzen, Edoardo; Zara, Federico; Faravelli, Francesca; Capra, Valeria; Scala, Marcello | |
| Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort | 1-gen-2025 | Lillback, Victoria; Bergant, Gaber; Di Feo, Maria Francesca; Bozović, Ivana Babić; Torella, Annalaura; Johari, Mridul; Maver, Aleš; Pelin, Katarina; Santorelli, Filippo M M; Nigro, Vincenzo; Hackman, Peter; Peterlin, Borut; Udd, Bjarne; Savarese, Marco | |
| Inferring disease course from differential exon usage in the wide titinopathy spectrum | 1-gen-2024 | Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A.; Attie‐bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco | |
| Novel missense variants associated with GNE myopathy | 1-gen-2025 | Ranta-Aho, Johanna; Cetrangolo, Viviana; Bello, Luca; Capece, Giuliana; Pegoraro, Elena; Feo, Maria Francesca Di; Mihaylova, Violeta; Jung, Hans H; Hauw, Fabien; Stojkovic, Tanya; Behin, Anthony; Romero, Norma; Maisonobe, Thierry; Lucchini, Matteo; Oliveira Santos, Miguel; Mirabella, Massimiliano; Tasca, Giorgio; Savarese, Marco; Udd, Bjarne; Johari, Mridul | |
| Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe | 1-gen-2025 | Sian, Veronica; Di Feo, Maria Francesca; Kurbatov, Sergei; Vihola, Anna; Luque, Helena; Konovalov, Fedor; Peric, Stojan; Duffy, Cathrina; Kornblum, Cornelia; Claeys, Kristl G.; Hackman, Peter; Udd, Bjarne; Savarese, Marco | |
| Salih Myopathy | 1-gen-2025 | Hackman, Peter; Savarese, Marco; Di Feo, Maria Francesca; Udd, Bjarne; A Salih, Mustafa | |
| The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum | 1-gen-2023 | Di Feo, Maria Francesca; Lillback, Victoria; Jokela, Manu; Mcentagart, Meriel; Homfray, Tessa; Giorgio, Elisa; Casalis Cavalchini, Guido C; Brusco, Alfredo; Iascone, Maria; Spaccini, Luigina; D'Oria, Patrizia; Savarese, Marco; Udd, Bjarne |