Advanced search    

Search: authors:"Rita Barone"

5 papers found.
Use AND, OR, NOT, +word, -word, "long phrase", (parentheses) to fine-tune your search.

Online comprehension across different semantic categories in preschool children with autism spectrum disorder

for this study. Author Contributions Conceptualization: Rita Barone, Concetto Spampinato, Renata Rizzo. Data curation: Rita Barone, Concetto Spampinato, Daniela Giordano. Formal analysis: Rita ... Barone, Concetto Spampinato, Carmelo Pino, Filippo Palermo, Daniela Giordano. Funding acquisition: Rita Barone. Investigation: Rita Barone, Carmelo Pino, Anna Scuderi, Anna Zavattieri, Mariangela

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

Background Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted the identification of an increasing number of causative submicroscopic rearrangements throughout the genome, constitutional duplications involving chromosome 1q22 have seldom been described in those patients. Results We report on a pedigree with...

Imaging findings of mucopolysaccharidoses: a pictorial review

Introduction Mucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive damage of affected tissues. The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible...

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia

Untreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency of glycoproteins and glycolipids (processing defect or CDG-II). The mechanism of this undergalactosylation has not been established. Here we show that in untreated galactosemia, there...

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

Martha Kalff-Suske 4 Anja Wild 4 Juliane Topp 4 Martina Wessling 4 Eva-Maria Jacobsen 4 Dorothea Bornholdt 4 Hartmut Engel 4 Heike Heuer 4 Cora M. Aalfs 3 4 Margreet G. E. M. Ausems 1 4 Rita Barone 0