More than 70 patients with Jacobsen syndrome have been described [Penny et al., 1995; Pivnick et al., 1996; Ono et al., 1996]. The Jacobsen syndrome comprises mild to moderate psychomotor retardation, trigonocephaly, minor facial anomalies, cardiac defects, and thrombocytopenia. The syndrome is caused by distal deletions of chromosome arm 11q, including 11q24.1. Until now, no clear correlation ...

Infantile fibrosarcoma (IFS) is a rare malignant soft tissue tumor characterized by local invasion, low rate of distant metastasis (1–13%), and manifestation during the first years life. Overall survival rates range from 89 to 94%, event-free – 81 84%. Classic IFS t(12;15)(p13;q25) translocation resulting in formation ETV6-NTRK3 fusion transcript. However, over past few years, there have been n...

The impact of aphasia on the everyday life Greek-speaking people with (PWA) is often underestimated by rehabilitation clinicians. This study explores adaptation and psychometric properties Greek (GR) version Aphasia Impact Questionnaire-21 (AIQ-21-GR) to address this issue. aim determine reliability validity AIQ-21. AIQ-21-GR was administered 69 stroke survivors, 47 22 without aphasia. data wer...

Rhythmic activity of neurons and heart cells is endowed by pacemaker channels that are activated by hyperpolarization and directly regulated by cyclic nucleotides (termed HCN channels). These channels constitute a multigene family, and it is assumed that the properties of each member are adjusted to fit its particular function in the cell in which it resides. Here we report the molecular and fu...