Search Results - "Vivarelli, R"
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1
Bone status assessment in subjects with neurofibromatosis type 1
Published in Bone (New York, N.Y.) (01-07-2009)Get full text
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2
Malformations of cortical development in neurofibromatosis type 1
Published in Neurology (23-12-2003)“…The authors report three patients with neurofibromatosis type 1 and different types of malformations of cortical development: Patient 1 had a possible…”
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3
Efficacy and safety of topiramate in infants according to epilepsy syndromes
Published in Seizure (London, England) (01-04-2005)“…Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of…”
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4
Incident reporting in anesthesia: misidentification of propofol concentrations due to similarities in drug packaging
Published in Minerva anestesiologica (01-07-2007)“…We report three cases of misidentification of propofol concentrations due to similarities in drug packaging, which were identified by the incident reporting…”
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Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1
Published in Child's nervous system (01-12-1993)“…We report the results of the reevaluation of 24 patients with neurofibromatosis type 1 (NF1) using central nervous system (CNS) imaging techniques. The first…”
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Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1) : a follow-up study
Published in European journal of pediatrics (01-06-1993)“…We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of café-au-lait (CAL) spots as the single…”
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7
Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder
Published in Journal of medical genetics (01-10-1989)“…A 13 year old male with a severe progressive neurological disorder was found to have a pseudodicentric chromosome resulting from a telomeric fusion 15p;20p. In…”
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8
11q- and constitutional X trisomy in a patient with M5b acute non-lymphocytic leukemia
Published in Haematologica (Roma) (01-05-1993)“…A patient with M5b acute nonlymphoblastic leukemia (ANLL) and a 47,XXX del(11) (q23) karyotype is described. Partial remission was obtained after treatment…”
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9
Familial Axenfeld‐Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?
Published in American journal of medical genetics (01-08-2002)“…Axenfeld‐Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe…”
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10
Molecular study in von Recklinghausen neurofibromatosis (NF1)
Published in Child's nervous system (01-04-1991)“…The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified…”
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Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis
Published in Journal of general virology (01-05-2003)“…1 Laboratory of Virology, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy 2 Department of Pediatrics, University of Brescia, Italy 3…”
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GM2 gangliosidosis variant B1: Neuroradiological findings
Published in Journal of neurology (2003)“…Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic…”
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13
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria
Published in Brain & development (Tokyo. 1979) (01-03-2001)“…Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal…”
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14
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene
Published in Human genetics (01-10-2000)“…Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer syndrome that predisposes to the development of bilateral vestibular schwannomas sometimes…”
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15
Craniofacial dyssynostosis: Case report and review
Published in American journal of medical genetics. Part A (01-09-2004)“…Craniofacial dyssynostosis (CFD) is a rare disorder related to premature closure of the lambdoid suture and the posterior part of the sagittal suture…”
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16
Interpretations of the Origins of Fascism
Published in The Journal of modern history (01-03-1991)“…Those works published before 1945 which made a significant contribution to the origins of fascism and the phase of study after 1945 are considered. A revised…”
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Premedication with intranasal midazolam in children of various ages
Published in Minerva anestesiologica (01-11-1998)“…To evaluate the efficacy of premedication with midazolam (mdz) administered using a nasal route compared to diazepam (dz) administered by mouth in children of…”
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18
1870 in European History and Historiography
Published in The Journal of modern history (01-06-1981)Get full text
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19
Italian Fascism
Published in The Historical Journal (01-09-1974)Get full text
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Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene
Published in Child's nervous system (01-06-1993)“…This study reports the results of a linkage analysis in nine families with members who had neurofibromatosis type 1 (NF1), using five restriction fragment…”
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