CHIAPPE, FRANCESCA
CHIAPPE, FRANCESCA
Istituto di Ricerca Genetica e Biomedica - IRGB
Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome
2014 Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin Mustafa, Ali; Baselvanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingoldzadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara Cigdem, Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur Adnan, Y; Onal Eray, Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine Guelen, Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome
2013 Uzunalic, N; Zenciroglu, A; Beken, S; Piras, R; Dilli, D; Aydin, B; Chiappe, F; Okumus, N; Crisponi, L
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.
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
2011 Guida V; Chiappe F; Ferese R; Usala G; Maestrale G; Iannascoli C; Bellacchio E; Mingarelli R; Digilio MC; Marino B; Uda M; De Luca A; Dallapiccola B.
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
2011 Guida, V; Chiappe, F; Ferese, R; Usala, G; Maestrale, G; Iannascoli, C; Bellacchio, E; Mingarelli, R; Digilio, Mc; Marino, B; Uda, M; De Luca, A; Dallapiccola, B
Crisponi syndrome: A new case with additional features and new mutation in CRLF1.
2008 Okur, I; Tumer, L; Crisponi, L; Eminoglu, Ft; Chiappe, F; Cinaz, P; Yenicesu, I; Hasanoglu, A
Expanding the mutational spectrum of CRLF1 in Crisponi Syndrome
2008 Laura Crisponi; Alessandra Meloni; Francesca Chiappe; Giuseppe Zampino; Ilyas Okur; Sumita Danda; Giangiorgio Crisponi ; Frank Rutsch.
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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome | 1-gen-2014 | Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin Mustafa, Ali; Baselvanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingoldzadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara Cigdem, Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur Adnan, Y; Onal Eray, Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine Guelen, Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome | 1-gen-2013 | Uzunalic, N; Zenciroglu, A; Beken, S; Piras, R; Dilli, D; Aydin, B; Chiappe, F; Okumus, N; Crisponi, L | |
| 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. | |
| Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. | 1-gen-2011 | Guida V; Chiappe F; Ferese R; Usala G; Maestrale G; Iannascoli C; Bellacchio E; Mingarelli R; Digilio MC; Marino B; Uda M; De Luca A; Dallapiccola B. | |
| Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. | 1-gen-2011 | Guida, V; Chiappe, F; Ferese, R; Usala, G; Maestrale, G; Iannascoli, C; Bellacchio, E; Mingarelli, R; Digilio, Mc; Marino, B; Uda, M; De Luca, A; Dallapiccola, B | |
| Crisponi syndrome: A new case with additional features and new mutation in CRLF1. | 1-gen-2008 | Okur, I; Tumer, L; Crisponi, L; Eminoglu, Ft; Chiappe, F; Cinaz, P; Yenicesu, I; Hasanoglu, A | |
| Expanding the mutational spectrum of CRLF1 in Crisponi Syndrome | 1-gen-2008 | Laura Crisponi; Alessandra Meloni; Francesca Chiappe; Giuseppe Zampino; Ilyas Okur; Sumita Danda; Giangiorgio Crisponi ; Frank Rutsch. | |
| 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. |