The technological improvements over the last years made considerable progresses in the knowledge of the etiology of intellectual Disability (ID). However, at present very little is known about the genetic heterogeneity underlying the non-syndromic form of ID (NS-ID). To investigate the genetic basis of NS-ID we analyzed 43 trios and 22 isolated NS-ID patients using a targeted sequencing (TS) approach. 71 NS-ID genes have been selected and sequenced in all subjects. We found putative pathogenic mutations in 7 out of 65 patients. The pathogenic role of mutations was evaluated through sequence comparison and structural analysis was performed to predict the effect of alterations in a 3D computational model through molecular dynamics simulations. Additionally, a deep patient clinical re-evaluation has been performed after the molecular results. This approach allowed us to find novel pathogenic mutations with a detection rate close to 11% in our cohort of patients. This result supports the h...
Le 4 prove di confronto varietale condotte in Sicilia, con il coordinamento del Crea, sono state allestite in 4 diversi ambienti: Libertinia (Catania), Cammarata e S. Stefano Quisquina (Agrigento), e Catania. Fra le cultivar in prova per 4 an- nate in 15 differenti condizioni ambientali, Monastir e Ramirez hanno mostrato le migliori rese e la maggiore stabilita’ produttiva, seguite da Anco Marzio, Saragolla, Alemanno, Kanakis, Iride, Tirex e Core. Fra le varieta’ in prova nel triennio 2013-2015 e nell’ultimo biennio, Emilio Lepido, Antalis e Asterix confermano elevata adattabilita’ e buona stabilita’ produttiva negli ambienti siciliani.
Palumbo, M., Virzì, N., Sciacca, F., Lombardo, G., Frenda, A.S., Poma, I., et al. (2015). Le varietà di grano duro per le semine 2015. Dettaglio regionale dei risultati: Sicilia. L'INFORMATORE AGRARIO, 33(33 (Supplemento Cereali)), 32-34 [10.1016/j.mrfmmm.2015.09.002].
Le varietà di grano duro per le semine 2015. Dettaglio regionale dei risultati: Sicilia
FRENDA, Alfonso Salvatore;POMA, Ignazio;
2015-01-01
Abstract
The technological improvements over the last years made considerable progresses in the knowledge of the etiology of intellectual Disability (ID). However, at present very little is known about the genetic heterogeneity underlying the non-syndromic form of ID (NS-ID). To investigate the genetic basis of NS-ID we analyzed 43 trios and 22 isolated NS-ID patients using a targeted sequencing (TS) approach. 71 NS-ID genes have been selected and sequenced in all subjects. We found putative pathogenic mutations in 7 out of 65 patients. The pathogenic role of mutations was evaluated through sequence comparison and structural analysis was performed to predict the effect of alterations in a 3D computational model through molecular dynamics simulations. Additionally, a deep patient clinical re-evaluation has been performed after the molecular results. This approach allowed us to find novel pathogenic mutations with a detection rate close to 11% in our cohort of patients. This result supports the h...| File | Dimensione | Formato | |
|---|---|---|---|
|
FruDuConv Sicilia_IA33_2015.pdf
Solo gestori archvio
Descrizione: Frumento Duro Convenzionale_IA 33/2015
Dimensione
257.88 kB
Formato
Adobe PDF
|
257.88 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.


