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Research Output 2018 2019

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Article
2019

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Sturiale, L., Bianca, S., Garozzo, D., Terracciano, A., Agolini, E., Messina, A., Palmigiano, A., Esposito, F., Barone, C., Novelli, A., Fiumara, A., Jaeken, J. & Barone, R., Sep 16 2019, In : Glycoconjugate Journal.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Glycosylation
Polysaccharides
Defects
Serum

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

Pascolini, G., Majore, S., Valiante, M., Bottillo, I., Laino, L., Agolini, E., Novelli, A., Grammatico, B., Calvani, M. & Grammatico, P., Feb 4 2019, In : Psychiatric Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Genes
Gene Duplication
Genome-Wide Association Study
Receptor Protein-Tyrosine Kinases

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Pelizzo, G., Collura, M., Puglisi, A., Pappalardo, M. P., Agolini, E., Novelli, A., Piccione, M., Cacace, C., Bussani, R., Corsello, G. & Calcaterra, V., Mar 29 2019, In : BMC Pediatrics. 19, 1

Research output: Contribution to journalArticle

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation
Open Access
Ehlers-Danlos Syndrome
Molecular Diagnostic Techniques
Alleles
Phenotype
Joint Instability

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M. & 10 others, Reardon, W., Shaw-Smith, C., Leventer, R. J., Delatycki, M. B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N. J. & Lockhart, P. J., Apr 5 2019, In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Glypicans
Mouth Abnormalities
Craniofacial Abnormalities
Developmental Bone Disease
Hypertelorism
Hirschsprung Disease
Exons
Mutation
Genes
Sleep
Down Syndrome
Neoplasms
Therapeutics
Mutation
Neuroimaging