about
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseAn Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseasePrimary diffuse leptomeningeal gliomatosis in children: a clinical pathologic correlation.The genotypic and phenotypic spectrum of PIGA deficiency.Management of diabetes insipidus and adipsia in the child.Atypical teratoid/rhabdoid tumor (ATRT) arising from the 3rd cranial nerve in infants: a clinical-radiological entity?Imaging of acute disseminated encephalomyelitis.Spinal dysraphism: MR imaging rationale.Cyclosporin and organ specific toxicity: clinical aspects, pharmacogenetics and perspectives.New MR sequences (diffusion, perfusion, spectroscopy) in brain tumours.Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.Prematurity and brain perfusion: Arterial spin labeling MRI.Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentPosterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia.Hypomyelination and congenital cataract: broadening the clinical phenotype.The use of neuroimaging for assessing disorders of pituitary development.MR imaging of neonatal brain infections.Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.A case of neonatal human parechovirus encephalitis with a favourable outcome.Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective.POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Imaging in spine and spinal cord malformations.Epidural compression in neuroblastoma: Diagnostic and therapeutic aspects.Diagnostic and prognostic value of 18F-DOPA PET and 1H-MR spectroscopy in pediatric supratentorial infiltrative gliomas: a comparative study.Prenatal diagnosis of a nasal glioma in the mid trimester.Current classification and imaging of congenital spinal abnormalities.Cystic angiomatosis of the craniocervical junction associated with Chiari I malformation: case report and review of the literature.Tumors of the spine in children.Multimodality imaging of Hodgkin disease and non-Hodgkin lymphomas in children.Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.Diabetes insipidus--diagnosis and management.Diffusion tensor imaging and fiber tractography in brain malformations.Pediatric spinal infection and inflammation.
P50
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P50
description
researcher
@en
հետազոտող
@hy
name
Andrea Rossi
@ast
Andrea Rossi
@en
Andrea Rossi
@es
Andrea Rossi
@nl
Andrea Rossi
@sl
type
label
Andrea Rossi
@ast
Andrea Rossi
@en
Andrea Rossi
@es
Andrea Rossi
@nl
Andrea Rossi
@sl
prefLabel
Andrea Rossi
@ast
Andrea Rossi
@en
Andrea Rossi
@es
Andrea Rossi
@nl
Andrea Rossi
@sl
P1053
A-4146-2011
P106
P1153
7403475016
P31
P496
0000-0001-8575-700X