Pubblicazioni

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

2020 - AMERICAN JOURNAL OF HUMAN GENETICS

Zhao, Y.; Diacou, A.; Johnston, H. R.; Musfee, F. I.; McDonald-McGinn, D. M.; McGinn, D.; Crowley, T. B.; Repetto, G. M.; Swillen, A.; Breckpot, J.; Vermeesch, J. R.; Kates, W. R.; Digilio, M. C.; Unolt, M.; Marino, B.; Pontillo, M.; Armando, M.; Di Fabio, Fabio; Vicari, S.; van den Bree, M.; Moss, H.; Owen, M. J.; Murphy, K. C.; Murphy, C. M.; Murphy, D.; Schoch, K.; Shashi, V.; Tassone, F.; Simon, T. J.; Shprintzen, R. J.; Campbell, L.; Philip, N.; Heine-Suner, D.; Garcia-Minaur, S.; Fernandez, L.; Antonarakis, S. E.; Biondi, M.; Boot, E.; Breetvelt, E.; Busa, T.; Butcher, N.; Buzzanca, A.; Carmel, M.; Cleynen, I.; Cutler, D.; Dallapiccola, B.; de la Fuente Sanches, M. A.; Epstein, M. P.; Evers, R.; Fernandez, L.; Fritsch, R.; Algas, F. G.; Guo, T.; Gur, R.; Hestand, M. S.; Heung, T.; Hooper, S.; Jin, A.; Kushan-Wells, L.; Laorden-Nieto, A. T.; Lattanzi, G.; Marshall, C.; McCabe, K.; Michaelovsky, E.; Ornstein, C.; Silversides, C.; Tran, O.; van Duin, E. D. A.; Vergaelen, E.; Warren, S. T.; Weinberger, R.; Weizman, A.; Zhang, Z.; Zwick, M.; Bearden, C. E.; Vingerhoets, C.; van Amelsvoort, T.; Eliez, S.; Schneider, M.; Vorstman, J. A. S.; Gothelf, D.; Zackai, E.; Agopian, A. J.; Gur, R. E.; Bassett, A. S.; Emanuel, B. S.; Goldmuntz, E.; Mitchell, L. E.; Wang, T.; Morrow, B. E.

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion. Potential role of PI3K/Akt pathway dysregulation

2017 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Guaraldi, F.; Di Nardo, G.; Tarani, L.; Bertelli, L.; Susca, F. C.; Bagnulo, R.; Resta, N.

Early lenalidomide treatment for low and intermediate-1 international prognostic scoring system risk myelodysplastic syndromes with del(5q) before transfusion dependence

2015 - CANCER MEDICINE

Oliva, Esther N; Lauseker, Michael; ALOE SPIRITI, Maria Antonietta; Poloni, Antonella; Cortelezzi, Agostino; Palumbo, Giuseppe A.; Balleari, Enrico; Sanpaolo, Grazia; Volpe, Antonio; Ricco, Alessandra; Ronco, Francesca; Alati, Caterina; D'Errigo, Maria Grazia; Santacaterina, Irene; KÃ¼ndgen, Andrea; Germing, Ulrich; Latagliata, Roberto

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

2015 - ANNALS OF HUMAN GENETICS

Nicita, Francesco; Ulgiati, Fiorenza; Bernardini, Laura; Garone, Giacomo; Papetti, Laura; Novelli, Antonio; Spalice, Alberto