Pubblicazioni

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Giuffrida, M. G.; Mastromoro, G.; Guida, V.; Truglio, M.; Fabbretti, M.; Torres, B.; Mazza, T.; De Luca, A.; Roggini, M.; Bernardini, L.; Pizzuti, A.

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: a potential pitfall for the diagnosis

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Baban, A.; Adorisio, R.; Corica, B.; Rizzo, C.; Cali, F.; Semeraro, M.; Taurisano, R.; Magliozzi, M.; Carrozzo, R.; Parisi, F.; Dallapiccola, B.; Vaz, F. M.; Drago, F.; Dionisi-Vici, C.

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Rossi-Espagnet, M. C.; Dentici, M. L.; Pasquini, L.; Carducci, C.; Lucignani, M.; Longo, D.; Agolini, E.; Novelli, A.; Gonfiantini, M. V.; Digilio, M. C.; Napolitano, A.; Bartuli, A.

A novel patient with WhiteâSutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Pascolini, G.; Agolini, E.; Fleischer, N.; Gulotta, E.; Cesario, C.; D'Elia, G.; Novelli, A.; Majore, S.; Grammatico, P.

KBG syndrome: common and uncommon clinical features based on 31 new patients

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Gnazzo, M.; Lepri, F. R.; Dentici, M. L.; Capolino, R.; Pisaneschi, E.; Agolini, E.; Rinelli, M.; Alesi, V.; Versacci, P.; Genovese, S.; Cesario, C.; Sinibaldi, L.; Baban, A.; Bartuli, A.; Marino, B.; Cappa, M.; Dallapiccola, B.; Novelli, A.; Digilio, M. C.

Tremor is a major feature of 9p13 deletion syndrome

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ferreira, S. I.; Cinnirella, G.; Ramos, L.; Suppa, A.; Pires, L. M.; Nardone, A. M.; Camerota, L.; Lanciotti, S.; Galasso, C.; De Maio, F.; de Melo, J. B.; Carreira, I. M.; Brancati, F.

Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A;  , ; Grammatico, P.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Baban, A.; Olivini, N.; Cantarutti, N.; Cali, F.; Vitello, C.; Valentini, D.; Adorisio, R.; Calcagni, G.; Alesi, V.; Di Mambro, C.; Villani, A.; Dallapiccola, B.; Digilio, M. C.; Marino, B.; Carotti, A.; Drago, F.

Healthcare recommendations for Joubert syndrome

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Bachmann-Gagescu, R.; Dempsey, J. C.; Bulgheroni, S.; Chen, M. L.; D'Arrigo, S.; Glass, I. A.; Heller, T.; Heon, E.; Hildebrandt, F.; Joshi, N.; Knutzen, D.; Kroes, H. Y.; Mack, S. H.; Nuovo, S.; Parisi, M. A.; Snow, J.; Summers, A. C.; Symons, J. M.; Zein, W. M.; Boltshauser, E.; Sayer, J. A.; Gunay-Aygun, M.; Valente, E. M.; Doherty, D.

The dark side of COVID-19: The need of integrated medicine for children with special care needs

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Leoni, Chiara; Giorgio, Valentina; Onesimo, Roberta; Tarani, Luigi; Celli, Mauro; Selicorni, Angelo; Zampino, Giuseppe

Clinical characteristics of individuals with Down syndrome deceased with CoVIDâ19 in ItalyâA case series

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Villani, Emanuele Rocco; CarfÃ¬, Angelo; Di Paola, Antonella; Palmieri, Luigi; Donfrancesco, Chiara; Lo Noce, Cinzia; Taruscio, Domenica; Meli, Paola; Salerno, Paolo; Kodra, Yllka; Pricci, Flavia; Tamburo de Bella, Manuela; Floridia, Marco; Onder, Graziano; Null, Null