DE LUCA, CHIARA
DE LUCA, CHIARA
Dipartimento di Medicina clinica, sanità pubblica, scienze della vita e dell'ambiente
APPLICATION OF ADVANCED DNA ANALYSIS TECHNOLOGIES FOR THE IDENTIFICATION OF NEW ETIOPATHOGENETIC MECHANISMS AND MOLECULAR PROFILING IN GENOMIC MEDICINE
2024-04-29 DE LUCA, Chiara
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
2024-01-01 Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
2023-01-01 Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type
2023-01-01 Quinzi, V; De Luca, C; Giovannetti, F; Splendiani, A; Cocciadiferro, D; Capolino, R; Brancati, F; Marzo, G
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis
2022-01-01 Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Annarita, Nottola Stefania; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Network, Italian Undiagnosed Diseases; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
2022-01-01 Laboy Cintron, D.; Muir, A. M.; Scott, A.; Mcdonald, M.; Monaghan, K. G.; Santiago-Sim, T.; Wentzensen, I. M.; De Luca, C.; Brancati, F.; Harris, D. J.; Goueli, C.; Stottmann, R.; Prada, C. E.; Biderman Waberski, M.; Mefford, H. C.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
2022-01-01 Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S; Hochscherf, Jennifer; Abdullah, Uzma; Höning, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A; Altmüller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M; Rudy, Natasha L; De Luca, Chiara; Paola Fortugno, Null; White, Susan M; Krawitz, Peter; Hurst, Anna C E; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nürnberg, Peter; Hussain, Muhammad Sajid
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
2022-01-01 Micale, L.; Morlino, S.; Carbone, A.; Carissimo, A.; Nardella, G.; Fusco, C.; Palumbo, O.; Schirizzi, A.; Russo, F.; Mazzoccoli, G.; Breckpot, J.; De Luca, C.; Ferraris, A.; Giunta, C.; Grammatico, P.; Haanpaa, M. K.; Mancano, G.; Forzano, G.; Cacchiarelli, D.; Van Esch, H.; Callewaert, B.; Rohrbach, M.; Castori, M.
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
2021-01-01 Accogli, A.; Wiegand, G.; Scala, M.; Cerminara, C.; Iacomino, M.; Riva, A.; Carlini, B.; Camerota, L.; Belcastro, V.; Prontera, P.; Fernandez-Jaen, A.; Bebek, N.; Scudieri, P.; Baldassari, S.; Salpietro, V.; Novelli, G.; De Luca, C.; von Stulpnagel, C.; Kluger, F.; Kluger, G. J.; Wohlrab, G. C.; Ramantani, G.; Lewis-Smith, D.; Thomas, R. H.; Lai, M.; Verrotti, A.; Striano, S.; Depienne, C.; Minetti, C.; Benfenati, F.; Brancati, F.; Zara, F.; Striano, P.
Craniosynostosis is a feature of CHD7-related CHARGE syndrome
2021-01-01 De Luca, C.; Picone, S.; Cassina, M.; Marziali, S.; Morlino, S.; Camerota, L.; Tamburrini, G.; Castori, M.; Paolillo, P.; Salviati, L.; Brancati, F.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
2021-01-01 Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; Pehlivan, Davut; Saadi, Nebal W; Sahin, Yavuz; Maroofian, Reza; Efthymiou, Stephanie; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Gu, Shen; Posey, Jennifer E; Lupski, James R; Hunter, Jill V; Wangler, Michael F; Carroll, Christopher J; Yang, Yaping
Challenges in molecular diagnosis of X-linked Intellectual disability
2020-01-01 De Luca, Chiara; Race, Valérie; Keldermans, Liesbeth; Bauters, Marijke; Van Esch, Hilde
Agnathia otocephaly: A case from the Katanga Copperbelt
2020-01-01 Kayembe-Kitenge, Tony; Manyong'a Kadiamba, Vicky; de Luca, Chiara; Musa Obadia, Paul; Kasamba Ilunga, Eric; Mbuyi-Musanzayi, Sébastien; Nawrot, Tim; Lubaba Nkulu, Célestin Banza; Nemery, Benoit; Devriendt, Koenraad
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature
2020-01-01 De Luca, Chiara; Crow, Yanick J; Rodero, Mathieu; Rice, Gillian I; Ahmed, Melek; Lammens, Martin; De Cock, Paul; Van Esch, Hilde; Lagae, Lieven; Rochtus, Anne
Bilateral internal mammary artery for multi-territory myocardial revascularization: long-term follow-up of pedicled versus skeletonized conduits†
2014-01-01 Di Mauro, M; Iacò, Al; Acitelli, A; D'Ambrosio, G; Filipponi, L; Salustri, E; De Luca, C; Romano, Silvio; Penco, Maria; Calafiore, A. M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| APPLICATION OF ADVANCED DNA ANALYSIS TECHNOLOGIES FOR THE IDENTIFICATION OF NEW ETIOPATHOGENETIC MECHANISMS AND MOLECULAR PROFILING IN GENOMIC MEDICINE | 29-apr-2024 | DE LUCA, Chiara | |
| The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome | 1-gen-2024 | Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T | |
| Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome | 1-gen-2023 | Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco | |
| First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type | 1-gen-2023 | Quinzi, V; De Luca, C; Giovannetti, F; Splendiani, A; Cocciadiferro, D; Capolino, R; Brancati, F; Marzo, G | |
| RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis | 1-gen-2022 | Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Annarita, Nottola Stefania; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Network, Italian Undiagnosed Diseases; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco | |
| A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay | 1-gen-2022 | Laboy Cintron, D.; Muir, A. M.; Scott, A.; Mcdonald, M.; Monaghan, K. G.; Santiago-Sim, T.; Wentzensen, I. M.; De Luca, C.; Brancati, F.; Harris, D. J.; Goueli, C.; Stottmann, R.; Prada, C. E.; Biderman Waberski, M.; Mefford, H. C. | |
| De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway | 1-gen-2022 | Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S; Hochscherf, Jennifer; Abdullah, Uzma; Höning, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A; Altmüller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M; Rudy, Natasha L; De Luca, Chiara; Paola Fortugno, Null; White, Susan M; Krawitz, Peter; Hurst, Anna C E; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nürnberg, Peter; Hussain, Muhammad Sajid | |
| Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement | 1-gen-2022 | Micale, L.; Morlino, S.; Carbone, A.; Carissimo, A.; Nardella, G.; Fusco, C.; Palumbo, O.; Schirizzi, A.; Russo, F.; Mazzoccoli, G.; Breckpot, J.; De Luca, C.; Ferraris, A.; Giunta, C.; Grammatico, P.; Haanpaa, M. K.; Mancano, G.; Forzano, G.; Cacchiarelli, D.; Van Esch, H.; Callewaert, B.; Rohrbach, M.; Castori, M. | |
| Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy | 1-gen-2021 | Accogli, A.; Wiegand, G.; Scala, M.; Cerminara, C.; Iacomino, M.; Riva, A.; Carlini, B.; Camerota, L.; Belcastro, V.; Prontera, P.; Fernandez-Jaen, A.; Bebek, N.; Scudieri, P.; Baldassari, S.; Salpietro, V.; Novelli, G.; De Luca, C.; von Stulpnagel, C.; Kluger, F.; Kluger, G. J.; Wohlrab, G. C.; Ramantani, G.; Lewis-Smith, D.; Thomas, R. H.; Lai, M.; Verrotti, A.; Striano, S.; Depienne, C.; Minetti, C.; Benfenati, F.; Brancati, F.; Zara, F.; Striano, P. | |
| Craniosynostosis is a feature of CHD7-related CHARGE syndrome | 1-gen-2021 | De Luca, C.; Picone, S.; Cassina, M.; Marziali, S.; Morlino, S.; Camerota, L.; Tamburrini, G.; Castori, M.; Paolillo, P.; Salviati, L.; Brancati, F. | |
| MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia | 1-gen-2021 | Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; Pehlivan, Davut; Saadi, Nebal W; Sahin, Yavuz; Maroofian, Reza; Efthymiou, Stephanie; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Gu, Shen; Posey, Jennifer E; Lupski, James R; Hunter, Jill V; Wangler, Michael F; Carroll, Christopher J; Yang, Yaping | |
| Challenges in molecular diagnosis of X-linked Intellectual disability | 1-gen-2020 | De Luca, Chiara; Race, Valérie; Keldermans, Liesbeth; Bauters, Marijke; Van Esch, Hilde | |
| Agnathia otocephaly: A case from the Katanga Copperbelt | 1-gen-2020 | Kayembe-Kitenge, Tony; Manyong'a Kadiamba, Vicky; de Luca, Chiara; Musa Obadia, Paul; Kasamba Ilunga, Eric; Mbuyi-Musanzayi, Sébastien; Nawrot, Tim; Lubaba Nkulu, Célestin Banza; Nemery, Benoit; Devriendt, Koenraad | |
| Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature | 1-gen-2020 | De Luca, Chiara; Crow, Yanick J; Rodero, Mathieu; Rice, Gillian I; Ahmed, Melek; Lammens, Martin; De Cock, Paul; Van Esch, Hilde; Lagae, Lieven; Rochtus, Anne | |
| Bilateral internal mammary artery for multi-territory myocardial revascularization: long-term follow-up of pedicled versus skeletonized conduits† | 1-gen-2014 | Di Mauro, M; Iacò, Al; Acitelli, A; D'Ambrosio, G; Filipponi, L; Salustri, E; De Luca, C; Romano, Silvio; Penco, Maria; Calafiore, A. M. |