BIGONI, Stefania
BIGONI, Stefania
A Family with γ-Thalassemia and High Hb A2 Levels
file con accesso da definire2016 Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Masieri, Marina Taddei; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature
2018 Parmeggiani, G.; Buldrini, B.; Fini, S.; Ferlini, A.; Bigoni, S.
An interconnected data infrastructure to support large-scale rare disease research
2024 F Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Yavari Dizjikan, Farid; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Joeri van der Velde, K; Veal, Colin; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; A Swertz, Morris; J Brookes, Anthony; consortium: Olaf Riess, Solve-RD; B Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; M Schulze-Hentrich, Julia; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; C 't Hoen, Peter A; M Vissers, Lisenka E L; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; M de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; J Brookes, Anthony; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Yavari Dizjikan, Farid; Shorter, Thomas; Töpf, Ana; Straub, Volker; Marini Bettolo, Chiara; Diaz Manera, Jordi; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Glynne Gut, Ivo; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Pourová Kremliková, Radka; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; M Sisodiya, Sanjay; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Katharina Sommer, Anna; Peters, Sophia; Oliveira, Carla; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; São José, Celina; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; A Swertz, Morris; Johansson, Lennart; K van der Velde, Joeri; van der Vries, Gerben; B Neerincx, Pieter; Ruvolo, David; M Abbott, Kristin; S Kerstjens Frederikse, Wilhemina; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; Posada De la Paz, Manuel; Bermejo Sánchez, Eva; López Martín, Estrella; Martínez Delgado, Beatriz; Javier Alonso García de la Rosa, F; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Clementina Radio, Francesca; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Judit Molnar, Maria; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Franco Jarava, Clara; Batlle Masó, Laura; Marcé-Grau, Anna; Colobran, Roger; Nascimento Osorio, Andrés; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; F Chinnery, Patrick; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Nazlı Başak, Ayşe; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; E Santen, Gijs W; K Bijlsma, Emilia; V Hoffer, Mariette J; L Ruivenkamp, Claudia A; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Angelman, Angelman-like, Angelman EEG-like
file con accesso da definire2018 Pellino, G.; Bulian, A.; Forest, C.; Bigoni, S.; Fiumana, E.; Faggioli, R.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
2021 Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møller, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome
2023 Musumano, Lucia Belen; Fancello, Virginia; Negossi, Laura; Ballardini, Elisa; Bigoni, Stefania; Ciorba, Andrea
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome
file con accesso da definire2018 Bigoni, Stefania; Mauro, Antonio; Ferlini, Alessandra; Corazzi, Virginia; Ciorba, Andrea; Aimoni, Claudia
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?
2022 Aliberti, L.; Gagliardi, I.; Bigoni, S.; Lupo, S.; Caracciolo, S.; Ferlini, A.; Isidori, A. M.; Zatelli, M. C.; Ambrosio, M. R.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024 Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; F Johansson, Lennart; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; M Vissers, Lisenka E L; Consortium: Olaf Riess, Solve-RD; B Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; M Schulze-Hentrich, Julia; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; C 't Hoen, Peter A; Steyaert, Wouter; de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; J Brookes, Anthony; Gibson, Spencer; Riaz, Umar; Warren, Greg; Anuhya Nalagandla, Sai; Patrick Wang, Yunze; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Marini Bettolo, Chiara; Diaz Manera, Jordi; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Glynne Gut, Ivo; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Esteve Codina, Anna; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek Jr, Milan; Turnovec, Marek; Thomasová, Dana; Pourová Kremliková, Radka; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; M Sisodiya, Sanjay; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Katharina Sommer, Anna; Peters, Sophia; Barbosa-Matos, Rita; São José, Celina; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; A Swertz, Morris; K van der Velde, Joeri; van der Vries, Gerben; B Neerincx, Pieter; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; M Abbott, Kristin; S Kerstjens Frederikse, Wilhemina; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Abou Jamra, Rami; Abramowicz, Marc; Aksel Kiliçarslan, Özge; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Nazl Başak, Ayşe; Batlle Masó, Laura; Beeson, David; Benoit, Valerie; Benson, Katherine; Bermejo Sánchez, Eva; K Bijlsma, Emilia; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Caballero Garcia de Oteyza, Andrés; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; F Chinnery, Patrick; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Hammar Bouveret, Eva; Hemelsoet, Dimitri; Herzog, Rebecca; V Hoffer, Mariette J; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; López Martín, Estrella; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Martínez Delgado, Beatriz; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Judit Molnar, Maria; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Nascimento Osorio, Andrés; Natera de Benito, Daniel; O Reghan, Mary; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; Posada De la Paz, Manuel; Privitera, Flavia; Clementina Radio, Francesca; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; L Ruivenkamp, Claudia A; Rump, Andreas; E Santen, Gijs W; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; A Yépez, Vicente; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
Dalla neonata alla madre: diagnosi di distrofia miotonica
file con accesso da definire2011 A., Tarocco; Ballardini, Elisa; Bigoni, Stefania; Donati, Ilaria; G., Novelli; M., Belgala; Garani, Giampaolo
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay
2018 Parmeggiani, Giulia; Bigoni, Stefania; Buldrini, Barbara; Garani, Giampaolo; Clauser, Luigi; Galiè, Manilo; Ferlini, Alessandra; Fini, Sergio
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
file con accesso da definire2004 Fichera, M; LO GIUDICE, M; Falco, M; Sturnio, M; Amata, S; Calabrese, O; Bigoni, Stefania; Calzolari, E; Neri, Marcella
Expanding CEP290 mutational spectrumin ciliopathies
file con accesso da definire2009 Travaglini, L; Brancati, F; Attie Bitach, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Iannicelli, M; Mancuso, B; Rigoli, L; Rozet, Jm; Swistun, D; Tolentino, J; Dallapiccola, B; Gleeson, Jg; Valente, Em; International JSRD Study, Group; Zankl, A; Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Sznajer, Y; Van Coster, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Kim, Ca; Maegawa, G; Petkovic, D; Abdel Salam, Gm; Abdel Aleem, A; Zaki, Ms; Marti, I; Quijano Roy, S; Sigaudy, S; de Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, Alessandra; Donati, Ma; Caridi, G; Divizia, Mt; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, Cd; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Del Giudice, E; Laverda, Am; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Cilio, Mr; Di Sabato, Ml; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al Tawari, Aa; Bastaki, L; Mégarbané, A; Sabolic Avramovska, V; de Jong, Mm; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C; Martorell Sampol, L; Rodriguez, B; Pascual Castroviejo, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yüksel, A; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; Blair, E; Bernes, S; Sanchez, H; Clark, Ae; Demarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, Td; Gallager, Te; Dobyns, Wb; Daugherty, C; Krishnamoorthy, Ks; Sarco, D; Walsh, Ca; Mckanna, T; Milisa, J; Chung, Wk; De Vivo, Dc; Raynes, H; Schubert, R; Seward, A; Brooks, Dg; Goldstein, A; Caldwell, J; Finsecke, E; Maria, Bl; Holden, K; Cruse, Rp; Swoboda, Kj; Viskochil, D.; Suppiej, Agnese
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
file con accesso da definire2017 Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; Van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohring, Axel; Deleuze, Jean-François; Boland, Anne; Meyer, Vincent; Olaso, Robert; Ginglinger, Emmanuelle; Study, D. D. D.; Rivière, Jean-Baptiste; Brunner, Han G; Hoischen, Alexander; Newbury-Ecob, Ruth; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, Federica; Bettella, Elisa; Polli, Roberta; Leonardi, Emanuela; Cristina Aspromonte, Maria; Sicilian, Barbara; Stanzial, Franco; Benedicenti, Francesco; Sensi, Alberto; Ciorba, Andrea; Bigoni, Stefania; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra
Genetic counseling for women referred for advanced maternal age: a telegenetic approach
file con accesso da definire2014 Gualandi, Francesca; Bigoni, Stefania; L., Melchiorri; B., Buldrini; A., Balboni; Neri, Marcella; Armaroli, Annarita; Parmeggiani, Giulia; Italyankina, Eleonora; Mauro, Antonio; Ravani, Anna; Fini, Sergio; Caracciolo, Stefano; Ferlini, Alessandra
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
2019 Bigoni, Stefania; Neri, Marcella; Scotton, Chiara; Farina, Roberto; Sabatelli, Patrizia; Jiang, Chongyi; Zhang, Jianguo; Falzarano, Maria Sofia; Rossi, Rachele; Ognibene, Davide; Selvatici, Rita; Gualandi, Francesca; Bosshardt, Dieter; Perri, Paolo; Campa, Claudio; Brancati, Francesco; Salvatore, Marco; De Stefano, Maria Chiara; Taruscio, Domenica; Trombelli, Leonardo; Fang, Mingyan; Ferlini, Alessandra
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes
2021 Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Sheila; Adamo d’Adamo, Pio
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype
2022 Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
file con accesso da definire2001 Vacca, M; Filippini, F; Budillon, A; Rossi, V; DELLA RAGIONE, Floriana; DE BONIS, Ml; Mercadante, G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, C; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M.
Titolo | Data di pubblicazione | Autore(i) | File |
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A Family with γ-Thalassemia and High Hb A2 Levels | 2016 | Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Masi... espandi | file con accesso da definire |
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature | 2018 | Parmeggiani, G.; Buldrini, B.; Fini, S.; Ferlini, A.; Bigoni, S. | |
An interconnected data infrastructure to support large-scale rare disease research | 2024 | F Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Col... espandi | |
Angelman, Angelman-like, Angelman EEG-like | 2018 | Pellino, G.; Bulian, A.; Forest, C.; Bigoni, S.; Fiumana, E.; Faggioli, R. | file con accesso da definire |
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria | 2021 | Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møll... espandi | |
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome | 2023 | Musumano, Lucia Belen; Fancello, Virginia; Negossi, Laura; Ballardini, Elisa; Bigoni, Stefania; C... espandi | |
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome | 2018 | Bigoni, Stefania; Mauro, Antonio; Ferlini, Alessandra; Corazzi, Virginia; Ciorba, Andrea; Aimoni,... espandi | file con accesso da definire |
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? | 2022 | Aliberti, L.; Gagliardi, I.; Bigoni, S.; Lupo, S.; Caracciolo, S.; Ferlini, A.; Isidori, A. M.; Z... espandi | |
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 2024 | Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vond... espandi | |
Dalla neonata alla madre: diagnosi di distrofia miotonica | 2011 | A., Tarocco; Ballardini, Elisa; Bigoni, Stefania; Donati, Ilaria; G., Novelli; M., Belgala; Garan... espandi | file con accesso da definire |
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay | 2018 | Parmeggiani, Giulia; Bigoni, Stefania; Buldrini, Barbara; Garani, Giampaolo; Clauser, Luigi; Gali... espandi | |
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia | 2004 | Fichera, M; LO GIUDICE, M; Falco, M; Sturnio, M; Amata, S; Calabrese, O; Bigoni, Stefania; Calzol... espandi | file con accesso da definire |
Expanding CEP290 mutational spectrumin ciliopathies | 2009 | Travaglini, L; Brancati, F; Attie Bitach, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Ia... espandi | file con accesso da definire |
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype | 2017 | Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani... espandi | file con accesso da definire |
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype | 2020 | Cesca, Federica; Bettella, Elisa; Polli, Roberta; Leonardi, Emanuela; Cristina Aspromonte, Maria;... espandi | |
Genetic counseling for women referred for advanced maternal age: a telegenetic approach | 2014 | Gualandi, Francesca; Bigoni, Stefania; L., Melchiorri; B., Buldrini; A., Balboni; Neri, Marcella;... espandi | file con accesso da definire |
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family | 2019 | Bigoni, Stefania; Neri, Marcella; Scotton, Chiara; Farina, Roberto; Sabatelli, Patrizia; Jiang, C... espandi | |
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes | 2021 | Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Shei... espandi | |
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype | 2022 | Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, ... espandi | |
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region | 2001 | Vacca, M; Filippini, F; Budillon, A; Rossi, V; DELLA RAGIONE, Floriana; DE BONIS, Ml; Mercadante,... espandi | file con accesso da definire |