ACCOGLI, ANDREA
ACCOGLI, ANDREA
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
2021 Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Dalla Bernardina, Bernardo; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano, Lucio; Guerrini, Renzo; La Briola, Francesca; Mastrangelo, Massimo; Montomoli, Martino; Mortilla, Marzia; Osanni, Elisa; Parisi, Pasquale; Perucca, Emilio; Pinelli, Lorenzo; Romaniello, Romina; Severino, Mariasavina; Vigevano, Federico; Vignoli, Aglaia; Bahi-Buisson, Nadia; Cavallin, Mara; Accogli, Andrea; Burgeois, Marie; Capra, Valeria; Chaves-Vischer, Virgine; Chiapparini, Luisa; Colafati, GiovannaStefania; D'Arrigo, Stefano; Desguerre, Isabelle; Doco-Fenzy, Martine; D'Orsi, Giuseppe; Epitashvili, Nino; Fazzi, Elisa; Ferretti, Alessandro; Fiorini, Elena; Fradin, Melanie; Fusco, Carlo; Granata, Tiziana; Johannesen, Katrine Marie; Lebon, Sebastien; Loget, Philippe; Moller, Rikke Steensjerre; Montanaro, Domenico; Orcesi, Simona; Quelin, Chloe; Rebessi, Erika; Romeo, Antonino; Solazzi, Roberta; Spagnoli, Carlotta; Uebler, Christian; Zara, Federico; Arzimanoglou, Alexis; Veggiotti, Pierangelo
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024 Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2021 Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type i reveals candidate genes for cranio-facial development
2017 Merello E.; Tattini L.; Magi A.; Accogli A.; Piatelli G.; Pavanello M.; Tortora D.; Cama A.; Kibar Z.; Capra V.; De Marco P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome | 2021 | Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Dalla Bernardina, Bernardo; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano, Lucio; Guerrini, Renzo; La Briola, Francesca; Mastrangelo, Massimo; Montomoli, Martino; Mortilla, Marzia; Osanni, Elisa; Parisi, Pasquale; Perucca, Emilio; Pinelli, Lorenzo; Romaniello, Romina; Severino, Mariasavina; Vigevano, Federico; Vignoli, Aglaia; Bahi-Buisson, Nadia; Cavallin, Mara; Accogli, Andrea; Burgeois, Marie; Capra, Valeria; Chaves-Vischer, Virgine; Chiapparini, Luisa; Colafati, GiovannaStefania; D'Arrigo, Stefano; Desguerre, Isabelle; Doco-Fenzy, Martine; D'Orsi, Giuseppe; Epitashvili, Nino; Fazzi, Elisa; Ferretti, Alessandro; Fiorini, Elena; Fradin, Melanie; Fusco, Carlo; Granata, Tiziana; Johannesen, Katrine Marie; Lebon, Sebastien; Loget, Philippe; Moller, Rikke Steensjerre; Montanaro, Domenico; Orcesi, Simona; Quelin, Chloe; Rebessi, Erika; Romeo, Antonino; Solazzi, Roberta; Spagnoli, Carlotta; Uebler, Christian; Zara, Federico; Arzimanoglou, Alexis; Veggiotti, Pierangelo | |
| BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | 2024 | Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina | |
| De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus | 2021 | Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo | |
| Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type i reveals candidate genes for cranio-facial development | 2017 | Merello E.; Tattini L.; Magi A.; Accogli A.; Piatelli G.; Pavanello M.; Tortora D.; Cama A.; Kibar Z.; Capra V.; De Marco P. |