11. CyclinD1 Down‐Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. Issue 3 (23rd November 2015) Authors: Fazio, Grazia; Gaston‐Massuet, Carles; Bettini, Laura Rachele; Graziola, Federica; Scagliotti, Valeria; Cereda, Anna; Ferrari, Luca; Mazzola, Mara; Cazzaniga, Gianni; Giordano, Antonio; Cotelli, Franco; Bellipanni, Gianfranco; Biondi, Andrea; Selicorni, Angelo; Pistocchi, Anna; Massa, Valentina Journal: Journal of cellular physiology Issue: Volume 231:Issue 3(2016:Mar.) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. CyclinD1 Down‐Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. Issue 3 (March 2016) Authors: Fazio, Grazia; Gaston‐Massuet, Carles; Bettini, Laura Rachele; Graziola, Federica; Scagliotti, Valeria; Cereda, Anna; Ferrari, Luca; Mazzola, Mara; Cazzaniga, Gianni; Giordano, Antonio; Cotelli, Franco; Bellipanni, Gianfranco; Biondi, Andrea; Selicorni, Angelo; Pistocchi, Anna; Massa, Valentina Journal: Journal of cellular physiology Issue: Volume 231:Issue 3(2016:Mar.) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?. Issue 3 (14th January 2020) Authors: Pezzani, Lidia; Pezzoli, Laura; Pansa, Alessandra; Facchinetti, Barbara; Marchetti, Daniela; Scatigno, Agnese; Lincesso, Anna R.; Perego, Loredana; Pingue, Monica; Pellicioli, Isabella; Migliazza, Lucia; Mangili, Giovanna; Galletti, Lorenzo; Giussani, Ursula; Bonanomi, Ezio; Cereda, Anna; Iascone... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Issue 2 (7th March 2022) Authors: Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De... Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures. Issue 7 (21st May 2013) Authors: Mariani, Milena; Bettini, Laura R.; Cereda, Anna; Maitz, Silvia; Gervasini, Cristina; Russo, Silvia; Masciadri, Maura; Biondi, Andrea; Larizza, Lidia; Selicorni, Angelo Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?. Issue 7 (21st May 2020) Authors: Parma, Barbara; Cianci, Paola; Mariani, Milena; Cereda, Anna; Panceri, Roberto; Fossati, Chiara; Maestri, Luciano; Macchini, Francesco; Onesimo, Roberta; Zampino, Giuseppe; Betalli, Pietro; Cheli, Maurizio; Selicorni, Angelo Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Phenotypes and genotypes in individuals with SMC1A variants. Issue 8 (26th May 2017) Authors: Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne‐Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier‐Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gilles... Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Rock around DYRK1A: Ethnic diversity, clinical challenges. Issue 5 (11th February 2023) Authors: Moroni, Alice; Pezzani, Lidia; Alfei, Enrico; Scatigno, Agnese; Cereda, Anna; Marzaroli, Michela; Guuva, Claudia; Gabbiadini, Sara; Pezzoli, Laura; Marchetti, Daniela; Spaccini, Luigina; Iascone, Maria Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. Issue 2 (4th May 2016) Authors: Moretto, Alessandra; Scaravilli, Vittorio; Ciceri, Valentina; Bosatra, Mariagrazia; Giannatelli, Federica; Ateniese, Bianca; Mariani, Milena; Cereda, Anna; Sosio, Simone; Zanella, Alberto; Pesenti, Antonio; Selicorni, Angelo Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?. Issue 1 (5th October 2015) Authors: Cavalleri, Valeria; Bettini, Laura R.; Barboni, Chiara; Cereda, Anna; Mariani, Milena; Spinelli, Marco; Gervasini, Cristina; Russo, Silvia; Biondi, Andrea; Jankovic, Momcilo; Selicorni, Angelo Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗