Antonella Giannotti

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Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon(More)
BACKGROUND Transposition of the great arteries (TGA) is considered to be associated only rarely with genetic syndromes and to have a low risk of precurrence among relatives of affected patients. Because most family studies have involved a relatively small number of patients and evaluated all types of TGA as a single group, we performed a large, prospective(More)
It has been suggested that anxiety may be a critical factor in certain forms of non-opioid environmental analgesia. Furthermore, age has been reported to increase the anxiety levels in rats as measured in the elevated plus-maze. In the present investigation 10 young (3 months), 10 middle-aged (14-16 months) and 10 old (28-30 months) male Wistar rats were(More)
In patients with head injury, endotracheal suctioning (ETS) is a potentially dangerous procedure, because it can increase intracranial pressure (ICP). The purpose of this prospective nonrandomized study was to evaluate the impact of ETS on intracranial dynamics in the acute phase of head injury. Seventeen patients with severe head injury (Glasgow Coma Score(More)
BACKGROUND Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p(More)
We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has(More)
327-32. 3 Clinical practice in medical genetics. Guidelines for the molecular genetics predictive test in Huntington's disease. In a recent issue of your journal we read with interest the very accurate review by Penman Splitt et al' on defects of left-right asymmetry. The authors correctly reported that in patients with heterotaxia (asplenia and polysplenia(More)
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